A 3-year-old child with alternate convergent squint and abnormal movements of eyes since 1 year

ONE MINUTE OPHTHALMOLOGY

Year : 2019  |  Volume : 67  |  Issue : 1  |  Page : 7

Hypopigmented fundus in a young male

Nawazish Fatma Shaikh, Vinod Kumar
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India

Date of Web Publication

21-Dec-2018

Correspondence Address:
Dr. Vinod Kumar
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi - 110 029 
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/ijo.IJO_1834_18

 

How to cite this article: Shaikh NF, Kumar V. Hypopigmented fundus in a young male. Indian J Ophthalmol 2019;67:7

How to cite this URL: Shaikh NF, Kumar V. Hypopigmented fundus in a young male. Indian J Ophthalmol [serial online] 2019 [cited 2018 Dec 22];67:7. Available from: http://www.ijo.in/text.asp?2019/67/1/7/248137

Case

A 3-year-old boy presented with alternate convergent squint and abnormal movements of eyes since 1 year. Family and systemic history was unremarkable. The child had a best-corrected visual acuity of 20/100 in both eyes (OU). Ocular examination revealed pendular nystagmus and normal anterior segments in OU. Iris OU was brown-colored. Dilated fundus examination revealed a hypopigmented fundus with prominent choroidal vessels [Figure 1]a, [Figure 1]b. Macular pigments and foveal avascular zone (FAZ) were lacking in OU.

Figure 1: Dilated fundus examination revealed a hypopigmented fundus with prominent choroidal vessels (a and b). Macular pigments and foveal avascular zone (FAZ) were lacking in OU. Swept-source optical coherence tomography revealed an absent foveal contour and preservation of retinal layers in the foveal area (c and d) Click here to view

What is Your Next Step?

1. Refraction and optical coherence tomography (OCT)
2. Magnetic resonance imaging
3. Genetic analysis
4. Visual evoked potentials and electroretinogram

Findings

The child had a refractive error of + 3D in OU. Color vision was found to be normal for the child. Swept-source OCT revealed an absent foveal contour and preservation of retinal layers in the foveal area [Figure 1]c, [Figure 1]d. A diagnosis of ocular albinism and foveal hypoplasia was made, and the parents were explained about the prognosis. The child was prescribed glasses and was advised regular follow-up in addition to a strabismic evaluation.

Diagnosis

Ocular albinism with foveal hypoplasia

Correct Answer: A.

Discussion

Ocular albinism is an X-linked disorder in contrast to oculocutaneous albinism, which is inherited in a autosomal recessive manner.^[1],[2] Patients usually present with a variable decrease in visual acuity (visual acuity ranging from 20/60 to 20/400), nystagmus, strabismus, and photophobia. While oculocutaneous albinism is an easy diagnosis, ocular albinism may pose a diagnostic challenge as iris may not be hypopigmented.^[1],[2] The patients are frequently mistaken as having myopia as the fundus is lightly pigmented. Foveal hypoplasia is a frequent association and can be easily missed. Absent foveal reflex, FAZ, and macular pigments indicate foveal hypoplasia, which can be confirmed on OCT (preservation of retinal layers at fovea) or fundus fluorescein angiography (absent FAZ).

Ocular albinism is characterized by mutation in the GPR143 gene leading to dysfunctional melanosome ultimately resulting in macromelanosomes.^[1],[2] Melanin acts as an inducer and organizer of the formation of the fovea, optic nerves, optic tracts, and visual cortex. Absence or deficiency of melanin leads to ocular structure malformation and optic tract misrouting.

To conclude, high index of suspicion is required to diagnose ocular albinism as the fundus in these cases is easily confused with myopia.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 

References

1.	Federico JR, Krishnamurthy K. Albinism. [Updated 2018 Jul 28]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018.
2.	De Filippo E, Schiedel AC, Manga P. Interaction between G protein-coupled receptor 143 and tyrosinase: Implications for understanding ocular albinism type 1.J InvestDermatol2017;137:457-65.

The Scientific Journal of Al-Azhar Medical Faculty, Girls : Subarachnoid versus intravenous dexmedetomidine and fentanyl for minimizing stress response in laparoscopic cholecystectomy Mofeed Abdalla The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):137-143 Background The magnitude of stress response depends on several factors such as duration and intensity of surgical trauma, patient’s age, surgical method, anesthetic technique, blood loss, and postoperative pain. Aim of the work The aim of this work was to study the effect of intravenous versus intrathecal dexmedetomidine and fentanyl on stress response during laparoscopic cholecystectomy. Patients and methods Sixty patients fulfilling the inclusion criteria who were undergoing laparoscopic cholecystectomies were randomly assigned to receive either intravenous fentanyl and dexmedetomidine (group I) or intrathecal fentanyl and dexmedetomidine (group II). Mean arterial blood pressure and heart rate were recor

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Subarachnoid versus intravenous dexmedetomidine and fentanyl for minimizing stress response in laparoscopic cholecystectomy Mofeed Abdalla The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):137-143 Background The magnitude of stress response depends on several factors such as duration and intensity of surgical trauma, patient’s age, surgical method, anesthetic technique, blood loss, and postoperative pain. Aim of the work The aim of this work was to study the effect of intravenous versus intrathecal dexmedetomidine and fentanyl on stress response during laparoscopic cholecystectomy. Patients and methods Sixty patients fulfilling the inclusion criteria who were undergoing laparoscopic cholecystectomies were randomly assigned to receive either intravenous fentanyl and dexmedetomidine (group I) or intrathecal fentanyl and dexmedetomidine (group II). Mean arterial blood pressure and heart rate were recorded before induction of anesthesia (T0), 5 min after intubation (T1), 30 min after start of surgery (T2), at skin closure (T3), 6 h postoperatively (T4), and 24 h postoperatively (T5). The number of patients who required intraoperative intravenous fentanyl and total intraoperative fentanyl consumption (µg), and the number of patients who required intravenous morphine at the end of surgery were recorded. Visual analogue scale and total postoperative morphine consumption (mg) at the end of surgery (M0), and at 6, 12, 18, and 24 h (M1, M2, M3, and M4, respectively) were recorded. Blood interleukin-6, cortisol, and glucose were measured before anesthesia (F0) and after recovery (F1). Postoperative complications were recorded. Results Heart rate and mean arterial blood pressure were statistically lower in group II at T2 and T3. The number of patients requiring intraoperative intravenous fentanyl and total intraoperative fentanyl consumption (µg), and the number of patients requiring intravenous morphine at the end of surgery were statistically lower in group II. Visual analogue scale and postoperative morphine consumption (mg) were statistically lower in group II at M0 and M1. Blood cortisol and blood glucose level were statistically lower in group II at F1. There were no statistical differences as regards complications. Conclusion Apart from lowering heart rate and BP, intrathecal dexmedetomidine and fentanyl was superior to intravenous dexmedetomidine and fentanyl, wherein it lowered pain score and analgesic consumption with attenuation of stress response.

Comparison between subtenon block and extraconal block during cataract surgery Ahmed M Abd El-Galeel, Osama I.A Badr, Khaled G Mohamed The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):144-149 Background Most ophthalmic procedures are performed under local anesthesia, and cataract extraction is the most frequently performed surgery in elderly patients. The aim of this study is to compare the intraoperative hemodynamic variables, efficacy, and efficiency of extraconal block versus subtenon block with low concentration of local anesthetic during cataract surgery. Patients and methods This prospective, randomized, and single-blind study was done on 80 patients American Society of anesthesiologists status I–III undergoing cataract surgery, of which 40 patients underwent subtenon block (group S) and 40 patients underwent extraconal block (group E). Five minutes after the start of anesthetic monitoring care, 5-ml mixture of lidocaine 1% and bupivacaine 0.25% containing 100 IU hyalorunidase, in a mixture ratio of 1 : 1, was injected intraocular slowly. Patients were monitored for intraoperative hemodynamics, ocular movement during surgery, and intraoperative pain sensation as primary outcome, and onset of blockade, pain assessment within 30 min postoperatively, number of patients need rescue dose, surgeon discomfort, and postoperative complications as secondary outcomes. Results Mean arterial blood pressure and heart rate in group S were significantly lower than those in group E but within safety margin. No significant difference was found between the two groups regarding full range of eye movement, surgeon’s discomfort grade during cataract surgery, and also, intraoperative pain sensation. The onset of blockade was significantly faster in group S than group E. Although group S had better postoperative analgesic effect than group E, postoperative rescue dose was of insignificant value. Conclusion Subtenon block seems to be a better local anesthetic technique than extraconal for cataract surgery, as it is faster, has less surgeon discomfort grading, and better postoperative analgesia. However, on the contrary, both subtenon and extraconal blocks are equally effective in pain control during surgery and also have good ocular akinesia during operation.

Endometrial hyperplasia versus carcinoma: does phosphatase and tensin homolog immunohistochemical expression differentiate between them Marwa A El Kholy, Eman A El Kholy The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):150-155 Context Phosphatase and tensin homolog (PTEN) is a protein that acts as a tumor suppressor by dephosphorylating the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. Loss of PTEN function and mutation in PTEN gene have been implicated in the pathogenesis of endometrial carcinoma (EC). Objective The aim was to evaluate the immunohistochemical expression of PTEN in endometrial hyperplasia and EC and to evaluate the relationship between its expression and tumor grade in EC. Materials and methods Specimens included 16 cases of endometrial hyperplasia without atypia, six cases of atypical endometrial hyperplasia, and 18 EC specimens. Immunohistochemical staining for PTEN was performed using diaminobenzidine detection kit on formalin-fixed and paraffin-embedded tissue samples. Tumor tissue blocks and clinical data were collected from the files of the Pathology Department of Al-Zahraa University Hospital during the period 2010–2014. Results Immunohistochemistry showed that PTEN was positive for nuclei and cytoplasm of glandular endometrial cells. The PTEN expression was decreased significantly in atypical hyperplasia or EC compared with simple or complex hyperplasia (P0.041). In EC, we proved that PTEN expression is downregulated in high-grade tumors. Conclusion A positive PTEN expression correlates significantly with hyperplasia without atypia and well-differentiated tumors. The downregulation of PTEN indicates a more malignant phenotype.

Brain natriuretic peptide for prediction of mortality in patients with sepsis Amani K Mohamed, Nagwa Abd El-Ghaffar Mohamed, Nalgaa Abou-Elfattah Tawfik, Marwa Yahia Mohamed The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):156-162 Introduction Worldwide, sepsis is one of the leading causes of morbidity and mortality. Patients are at high risk for irreversible organ failure and a lethal course. About 60 000 individuals die from sepsis annually, and survivors have a reduced quality of life. In addition, sepsis places a considerable economic burden on the society. Early and comprehensive treatment improves outcome significantly. Brain natriuretic peptides (BNPs) are powerful predictors of death and major events in patients with stable coronary disease and pulmonary embolism. Several prospective studies have been carried out to investigate the potential role of BNPs in predicting mortality in septic patients in ICUs. The aim of this prospective study was to evaluate BNP for the prediction of mortality and myocardial dysfunction in severe sepsis and septic shock. Patients and methods This prospective study was carried out on 50 patients including group I, patients with sepsis, group (II), patients with severe sepsis, and group III, patients with septic shock. This study was carried out in the ICU of the Internal Medicine Department, Al-Zahraa University Hospital, in the period between January 2013 and March 2014 with written consents from our patients according to the ethical committee of the university. BNPs were determined by enzyme-linked immunosorbent assay. Results There was a highly statistical difference in the mean±SD of the BNP levels in group III (901.77±259.6) compared with group II (610.84±102.46), P value less than 0.01; also, there was a statistical difference in the BNP levels in group III (901.77±259.6) compared with group I (217.4±81.16), P value less than 0.01, whereas there was a statistically significant difference in group II (610.84±102.46) compared with group I (217.4±81.16), P value less than 0.05. In terms of the correlation between the BNP levels and other parameters of the patient groups, there was a highly positive significant correlation between BNP levels and the acute physiology and chronic health evaluation (APACHE II) score, the Sequential Organ Failure Assessment score, and white blood cells count. A significant positive correlation was found between BNP levels and prothrombin concentration (PC). There was a nonsignificant correlation between BNP and age, creatine phosphokinase, creatine kinase-MB, serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, prothrombin time, international normalized ratio, and length of stay. Conclusion Our results suggested that an elevated BNP level may prove to be a powerful predictor of mortality in patients with sepsis. Future larger and more adequately powered prospective studies are warranted to clarify the prognostic value of BNPs in conjunction with other biomarkers.

Expression of TWIST1 and CD44 as diagnostic and prognostic biomarkers in patients with gastric cancer Marwa A El Kholy, Hala A El Sayed, Eman M Ahmed The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):163-170 Objective The aim of this study was to investigate the association of TWIST1 and CD44 in gastric cancer (GC) with clinical parameters and their relation to prognosis, which may be beneficial for targeted therapeutic strategies in the future. Materials and methods The material of this work consisted of 40 primary GC specimens from patients who underwent radical gastrectomy. Patients who received neoadjuvant chemotherapy or chemoradiotherapy, those who presented with other cancers at the same time, or the patients with incomplete clinical data were excluded from the study. Hematoxylin and eosin-stained sections from all cases were re-evaluated and further stained immunohistochemically using antibodies against TWIST1 and CD44. Results TWIST1 and CD44-positive expressions were significantly increased in GC cases of diffuse type (P=0.019 and 0.002, respectively). Moreover, there was a statistically significant correlation between both markers and tumor grade, stage, and lymphovascular invasion (P=0.027 and 0.010, P=0.002 and 0.012, and P=0.001 and 0.005, respectively). A statistically significant correlation was found between TWIST1 and CD44 expressions in GCs (P=0.000). Conclusion The presence of TWIST1-positive carcinoma cells and CD44-positive cancer stem-like cells in GC tissue can be used as a diagnostic tool for GC and regarded as a marker of poor prognosis in patients with GC, which may provide potential targets for GC therapy.

Homocysteinemia in relation to anemia in hypothyroid patients Samia Souka, Hanaa Kandil, Soheir Korraa, Aida A Abdel Hameed, Marwa Hassan The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):171-180 Background Anemia and hypothyroidism are both common diseases in the community. Homocysteine (HCY) levels are increased in patients with hypothyroidism and methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common genetic cause of hyperhomocysteinemia. The aim of the present study was to evaluate the level of serum HCY in patients with hypothyroidism and to study the relation of associated anemia with the serum level of HCY and MTHFR gene in patients with hypothyroidism. Patients and methods The study was conducted on 60 adult women attending the Endocrinology Outpatient Clinic of Al-Zahraa Hospital between September 2014 and June 2015 for proper diagnosis and management. Individuals of the study were divided into two main groups: group I (GI) with 30 hypothyroid patients, where 13 of them were postsurgical cases, and group II (GII) with 30 euthyroid individuals as a control group. Diagnosis was based on thyroid-stimulating hormone level reference values. Patients in GI were further classified into two subgroups: mild hypothyroid (subgroup I) and overt hypothyroid (subgroup II). Patient and control groups also were classified into anemic and nonanemic subgroups according to hemoglobin levels. The selected hypothyroid patients were women under thyroid hormone replacement therapy. Blood sample was obtained for proper investigations. Complete blood count, routine blood chemistry, serum iron level, thyroid function tests, vitamin B12 level, serum homocysteine (HCY), and MTHFR were performed. We performed a pilot study on MTHFR gene polymorphism. The C677T MTHFR gene mutation was detected in three of 10 patients and in two of 10 controls. No evidence of TT MTHFR gene mutation was observed in both patient and control groups. IBM SPSS statistics (version 23.0, USA, 2015) was used for data analysis. Results revealed the presence of anemia according to hemoglobin level (<12 g/dl). In patients group (GI), 50% (15/30) as compared with 13.3% (4/30) in the control group (GII) had anemia. Serum iron level in patients group (GI) was deficient in 40% (11/30), whereas deficient in 16.7% (5/30) in control group (GII). Vitamin B12 deficiency was found to be 44% (11/25) in patients group (GI), whereas in the control group (GII) was 6.7% (2/30). Analysis by Wilcoxon’s rank sum test, homocysteine (HCY) serum level showed a highly significant increase among patients (GI) as compared with control (GII). Ranked Spearman’s correlation test for the patients (GI) and control (GII) showed a significant negative correlation between homocysteine (HCY) and MTHFR serum levels, whereas the correlation with red cell indices parameters was insignificant. Serum iron and B12 levels were significantly correlated in patient group (GI). Pearson χ2 tests were done between both patients and control groups for the presence of anemia, iron deficiency, and elevated serum homocysteine (HCY) level and all revealed statistically significant results. Conclusion There is no significant correlation between homocysteinemia and anemia. However, the strong association between anemia and hypothyroidism is attributed mainly owing to combined iron and vitamin B12 deficiencies. This might explain the decreased response to treatment among the selected hypothyroid patients.

Impact of direct-acting antiviral therapy in Egyptian patients with chronic hepatitis C and liver cirrhosis Mohammed H Elnadry, Sherif A Abdel-Aziz, Mohammed Ghareb, Ali A Ahamad, Nagah M Abu-Mohammed, Marwan M Tayel The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):181-188 Background and aims In Egypt, ∼14.7% of the population has hepatitis C infection and genotype 4 infection accounts for more than 90% of the hepatitis C virus infections. Available data with newer all-oral regimens in the treatment of genotype 4 infection suggest that sustained virological response (SVR) 12 rates in treatment-naïve cirrhotic and noncirrhotic patients are greater than 95%. The study aimed to evaluate the virological response 12 weeks after treatment (SVR12), change in the model for end-stage liver disease score, and adverse clinical events during the study period. Patients and methods This prospective study included 451 patients with chronic hepatitis C and liver cirrhosis over a 3-month period started at January 2017. And the study was ethically approved by the Medical Research Ethics Committee, Faculty of Medicine, Al-Azhar University. The enrolled patients were classified into three groups: group I included 162 patients with chronic hepatitis C and liver cirrhosis subjected to direct-acting antivirals (DAAs) therapy (100/162 compensated cirrhosis and 62/162 decompensated cirrhosis), group II included 234 patients known to have chronic hepatitis C without liver cirrhosis subjected to DAAs therapy, and group III included 55 patients with chronic hepatitis C and liver cirrhosis not subjected to DAAs therapy according to the national protocol of therapy (as a control group). Treatment was administered for 12 weeks that included variable regimens of DAAs according to the Egyptian Ministry of Health protocol. Results We included 451 patients with chronic hepatitis C infection and liver cirrhosis; 47.8% of the patients were male, 84.4% were treatment naive, and 54.9% had cirrhosis. Of the study participants, 150 patients in group I and 53 patients in group II received sofosbuvir+daclatasvir+ribavirin, 183 patients received daclatasvir+sofosbuvir (group II), seven patients in group II received sofosbuvir+ledipasvir, five patients received sofosbuvir+ledipasvir+ribavirin (in group I), and seven patients in group I and nine patients in group II received ombitasvir/paritaprevir/ritonavir+ribavirin. Twelve weeks after end of treatment (SVR12) were 91.3% and 96.5% observed in group I and group II, respectively irrespective of the regimen of therapy. Treated patients in group I had a mean negative change in model for end-stage liver disease (−0.722; SD, 2.603) representing an improvement in liver function, whereas untreated patients in group III showed a minimal mean positive change (0.00; SD, 2.92) representing a deterioration in liver function (P<0.001). Improvements were observed in the Child-score (Child–Pugh–Turcotte) in group I versus untreated patients in group III. Hepatic encephalopathy was evident in 6.1% of patients in group I after treatment versus 38.1% in untreated patients (group III), and ascites developed in 30.2% of patients after treatment (group I) versus 65.4% in untreated patients (group III). Conclusion Oral regimens of DAAs are effective in the treatment of hepatitis C virus infection even in patients with liver cirrhosis, leading to improvements in liver functions.

Studying the changes of ocular wavefront aberrations after neodymium : yttrium aluminum garnet laser capsulotomy Nermeen M Badawi The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):189-193 Aimof the study The aim of this study is to evaluate the changes of wavefront aberrations after performing neodymium : yttrium aluminum garnet (Nd : YAG) laser posterior capsulotomy for the management of posterior capsular opacifications. Patients and methods This study is a prospective study that was performed on 100 eyes of 87 patients with posterior capsule opacification following phacoemulsification, in the period from March 2017 to October 2017. A complete ophthalmic examination and optical wavefront imaging were performed to every patient. Patients underwent posterior capsulotomy using Nd : YAG laser with a follow-up period of 6 months. Results There were no significant changes in postoperative refraction at P value more than 0.05 still the best-corrected visual acuity showed a clinically significant at P value less than 0.05. The intraocular pressure was statistically significantly increased on the first postoperative day (P<0.05) but not in other postoperative visits. Regarding higher order aberrations there was a statistically significant improvement in total third-order aberrations (P<0.05), coma aberration (P<0.05), total fourth-order aberrations (P<0.05), spherical aberration (P<0.05), and total higher order aberrations (P<0.05) while quadrafoil and fifth-order aberrations showed no statistically significant changes. Conclusion Nd : YAG laser posterior capsulotomy causes a significantly decrease in wavefront aberrations in patients with posterior capsule opacification.

Bone mineral density in relation to polycystic ovary syndrome: an insight into irisin and insulin Olfat Fawzy, Nagwa A Elghaffar, Eman Mahmoud, Abeer Helmy The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):194-204 Background and aim Polycystic ovary syndrome (PCOS) is a complex metabolic and endocrine disorder. The influence of different metabolic and endocrine changes in women with PCOS and their relevance to bone status remains to be documented. Irisin is a newly identified adipo-myokine, which may play a role in the etiopathogenesis of PCOS as well as bone metabolism. The aim of the study was to assess bone mineral density (BMD) and serum irisin level in women with PCOS and to determine BMD relationship with irisin and other hormonal parameters. Patients and methods The study enrolled 80 women of reproductive age having PCOS and 15 age-matched and BMI-matched healthy women to serve as controls. A metabolic panel, reproductive hormones, and serum irisin level were measured. In addition, BMD of the spine and femur was also assessed using dual-energy X-ray absorptiometry. Results Serum irisin level, fasting insulin, and homeostatic model assessment of insulin resistance were significantly higher in the PCOS group compared with the control group. Receiver operating characteristic curve for serum irisin was done for the PCOS group and the control group and demonstrated that the cut-off value for serum irisin was 0.161 μg /dl. There was also a statistically significant difference between the PCOS group and the control group in BMD of spine and femur, being higher in the PCOS group. Logistic regression analysis has shown that serum irisin level, waist circumference, and fasting serum insulin were predictors for the z-score of spine in the PCOS group. Conclusion Serum irisin level may be considered as a novel biomarker for PCOS diagnosis. Circulating irisin in PCOS is strongly related to BMD. This suggests that irisin as an adipo-myokine may also be associated with bone metabolism.

Occult hepatitis B virus among patients with chronic hepatitis and hepatocellular carcinoma Khodeir A Naeima, Abd-El-Samae M Eman, Aly R Dina, El-Moatassem M Ola The Scientific Journal of Al-Azhar Medical Faculty, Girls 2018 2(3):205-211 Background Hepatitis B virus (HBV) infection is diagnosed when the circulating HBV surface antigen (HBsAg) is serologically detected. Occult HBV infection is defined as the infection state negative for HBsAg serology, but it has shown viral genome persistence in infected individuals. The aim of the study is to determine the prevalence of occult HBV among patients with chronic hepatitis negative to HBsAg in the presence or absence of hepatitis C virus (HCV) infection. Patients and methods This study was conducted on a total number of 55 patients with chronic hepatitis (liver cirrhosis in 44 cases, nonalcoholic fatty liver in six cases) and hepatocellular carcinoma in five cases. All studied cases were subjected to routine liver function tests, HBsAg, HBsAb, hepatitis c virus immunoglobulin G (HbcIgG), α-fetoprotein, HCV RNA, and HBV DNA detection. Result All cases were negative to HBsAg and HBsAb in the presence or absence of HCV infection. HBV DNA detection by real-time RT-PCR confirmed the positivity of HBV infection [occult hepatitis b infection (OBI)] in two (4.5%) out of 44 cases of cirrhotic liver and represented 3.6% of the total cases studied with a viral DNA of 116 and 159 copies/ml, respectively. One case of OBI had a high level of α-fetoprotein (392 Iu/ml) and the second case had high copies of HCV RNA 127 000 copies/ml, that is coinfection. HbcIgG was positive in 31.8% in cirrhotic patients (including one out of the two positive OBI). HCV RNA was negative in 100.0% of nonalcoholic fatty liver, positive in 39 (one was positive OBI) cases with cirrhosis with a median value of 45 000 copies and in four out of the five hepatocellular carcinoma cases with a median value of 1.85E+08. This is statistically significant (P=0.01). We come to the conclusion that occult HBV do exist in our community. The diagnosis of OBI should be based on high sensitivity of HBsAg and HBV DNA testing.

Unsteadiness in gait, profuse sweating, exanthematous vesicular rash.Acute cerebellar ataxia due to varicella zoster virus

A rare neurological sequelae of chicken pox in an adult p. 268
Kandan Balamurugesan, Prem Davis, Rajangam Ponprabha, Malaimala Sarasveni
DOI:10.4103/2221-6189.248032  
Chicken pox is a disease of childhood caused by varicella zoster virus belonging to the α-herpesvirus-3 family. But the clinical presentation in adults is uncommon and is usually associated with complications. The complications are more commonly seen in immunocompromised individuals and in people who get infected at the later age group. Since the varicella zoster virus rarely causes cerebellar disease in adults, hence here we report a non-immunized, immune-competent adult patient presented to the emergency department with unsteadiness in gait, profuse sweating, exanthematous vesicular rash. We made a diagnosis of acute cerebellar ataxia due to varicella zoster virus and treated accordingly.
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Atypical case of severe preeclampsia complicated by generalized convulsions (eclampsia) and hemolysis, elevated liver enzymes, and low platelet count syndrome in an 18 weeks pregnant patient with chronic hypertension

Severe eclampsia and HELLP syndrome at 18 weeks of pregnancy in a patient with chronic hypertension p. 265
Tomasz Wojewoda, Edyta Unkiewicz, Ewa Wojewoda-Chmiel, Piotr Bijak, Michal Bogusiewicz
DOI:10.4103/2221-6189.248031  
Preeclampsia is a pregnancy specific disease characterized by hypertension and proteinuria, by definition, developing after 20 weeks of pregnancy. Here we present an atypical case of severe preeclampsia complicated by generalized convulsions (eclampsia) and hemolysis, elevated liver enzymes, and low platelet count syndrome in an 18 weeks pregnant patient with chronic hypertension. Occurrence of these complications was preceded by upper right quadrant abdominal pain and severe hypertension. In this case no evidence of autoimmunity disorders or molar pregnancy was found.
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Acute dengue hypokalemic paralysis complicated by hypomagensemia

 p. 262
Durgesh Pushkar, Bidyut Roy, Hirdesh Chawla, Tauhid Ahmad
DOI:10.4103/2221-6189.248030  
Endemic to over 100 countries dengue virus infection has now become the most rapidly spreading mosquito-borne disease in the world. Dengue symptoms range from minor flu-like symptoms to major complications like bleeding, shock, and rarely death due to organ failure. Atypical manifestations of neurological, cardiovascular, gastrointestinal origin are collectively grouped into the expanded dengue syndrome. Acute motor quadriparesis have been reported in several cases of dengue infection. We report a rare and non-fatal case of motor quadriparesis due to hypokalemia complicated by associated hypomagnesemia in a dengue positive patient.
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The changes of cognitive function after brain-blast injury

Changes of inflammatory factors, reactive oxygen species and cognitive function in mice after brain-blast injury p. 258
Ying Liu, Yun-En Liu, Chang-Ci Tong, Hong-Xu Jin
DOI:10.4103/2221-6189.248025  
Objective: To study the changes of cognitive function in mouse after brain-blast injury. Methods: Fourty healthy male C57BL/6 mice were randomly divided into model group and control group. After 24 h of injury, histopathological changesc and reactive oxygen species changes were observed under microscope; while changes of inflammatory cytokines content were determined by Western-blot. Four weeks later, Morris water maze method was used to detect the cognition impairment. Results: HE staining showed blast induced brain injury in C57BL/6 mice. Compared with normal control group, the expression of IL-1β,IL-4, IL-6 were significantly increased in brain tissue of model group whereas IL-10 was significantly decreased (P<0.05); ROS expression in the hippocampus of model group mice was significantly increased compared with that in the control group. Morris water maze showed cognition impairment in mice after brain-blast injury. Conclusions: Brain-blast injury causes cognition impairment in mice, which may be related to the occur of inflammatory change and oxidative stress in the early stage.
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The role of regulatory T cells (Tregs) at late stages of stroke

Effect of partial depletion of CD25+ T cells on neurological deficit and tissue damage in acute cerebral ischemia rat models p. 247
Ana L Rodriguez-Perea, Johanna Gutierrez-Vargas, Mauricio Rojas, Gloria P Cardona-Gomez, Paula A Velilla
DOI:10.4103/2221-6189.248029  
Objective: To evaluate the role of regulatory T cells (Tregs) at late stages of stroke. Methods: Anti-CD25 antibody (or PBS as a control) was injected to reduce the pool of Tregs in Wistar rats; then, ischemia was induced transiently by middle cerebral artery occlusion during 60 min and reperfusion was allowed for 7 d. Then, Treg frequency was analyzed in peripheral blood, spleen and lymph nodes. Neurological score (0-6) and infarct volume were also determined. Results: Nine days after injection, the CD4+CD25+ T cells were reduced by 70.4%, 44.8% and 57.9% in peripheral blood, spleen and lymph nodes, respectively compared to PBS-treated rats. In contrast, the reduction of CD4+FOXP3+ T cells was lower in the same compartments (38.6%, 12.5%, and 29.5%, respectively). The strongest reduction of CD25+CD4+ T cells was observed in those FOXP3-negative cells in blood, spleen and lymph nodes (77.8%, 52.8%, and 60.7%, respectively), most likely corresponding to activated T cells. Anti-CD25-treated transient middle cerebral artery occlusion rats had a lower neurological deficit and did not develop tissue damage compared with PBS-treated animals. Conclusions: These findings suggest that treatment with anti-CD25 in our model preferentially reduce the T cell population with an activated phenotype, rather than the Treg population, leading to neuroprotection by suppressing the pathogenic response of effector T cells.
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Intranasal ketamine as an analgesic agent for acute pain management in emergency department

: A literature review p. 241
Abdolghader Pakniyat, Morteza Qaribi, Dorin Rahnama Hezaveh, Ali Abdolrazaghnejad
DOI:10.4103/2221-6189.248028  
Ketamine is a well-known dissociative anesthetic agent, and has been used over 50 years. Intranasal pathway is a mucosal way for absorbing agents to directly affect in brain via olfactory sheets, bypassing first pass metabolism and the blood brain barrier. The current uses of intranasal ketamine as an analgesic agent for acute pain management in emergency department are discussed in this review article. Using "ketamine", "pain or analgesia", and "intranasal" as keywords, a search of google scholar, Pubmed, web of science, and Medline database from 1970 until 2017 was performed. Finally, from 1 204 papers extracted via primary search, 1 088 papers were omitted and finally 10 studies were considered for further assessment. There were four observational studies, one case series and report and 5 clinical trials. Ketamine was used for acute pain control due to musculoskeletal trauma, burns, and painful procedures. A total of 390 cases were included in these studies. The studies used ketamine with doses ranging 0.45-1.25 mg/kg via intranasal pathway. Intranasal ketamine provides relatively rapid, well tolerated, and clinically significant analgesia for emergency department patients. Considering the lack of adequate studies and undetermined intranasal dose, it is better to conduct further high quality investigation in both adults and pediatrics.
http://www.jadweb.org/currentissue.asp?sabs=y

Endogenous endophthalmitis secondary to melioidosis in paediatric patients

Endogenous endophthalmitis secondary to melioidosis in paediatric patients: Case series and review article p. 234
Wendy Ong Chin Feng, Wee Min Teh, Wan-Hazabbah Wan Hitam, Haslina Mohammad Ali
DOI:10.4103/2221-6189.248027  
Endogenous endophthalmitis is a devastating infection of the eye which can lead to permanent blindness. We report two rare cases of paediatric endogenous endophthalmitis secondary to melioidosis with contrasting visual outcomes. Both patients presented with acute painful visual loss with poor vision on presentation after exposure to open water sources (swimming at two separate locations with waterfalls). Both were diagnosed to have melioidosis endogenous endophthalmitis based on the ocular features clinically and via positive melioidosis serology. They otherwise did not exhibit any symptoms and signs suggestive of systemic melioidosis infection. Even though the two children demonstrated severe ocular involvement, ocular culture from vitreous and aqueous sampling taken from one of the patients did not yield any positive results. No ocular sampling was taken from the other patient. After standard antimicrobial treatment, the first patient responded well with good visual recovery without requiring any surgical intervention for the endophthalmitis. In contrast, our second patient ended up with poor visual outcome despite undergoing multiple intravitreal antibiotic injections and early pars plana vitrectomy. This is because he developed extensive retinal detachment due to the aggressive ocular infection. The diagnosis of endogenous endophthalmitis due to ocular melioidosis remains challenging and requires a high index of suspicion in areas endemic for the causative organism. Early empirical antibiotic treatment should be initiated in suspicious cases, even though the treatment outcomes may vary greatly
http://www.jadweb.org/currentissue.asp?sabs=y

Coil embolization of intralobar pulmonary sequestration - an alternative to surgery: a case report

Pulmonary sequestration is a congenital lung disease characterized by nonfunctioning pulmonary tissue that lacks normal communication with the bronchial tree and is supplied by a nonpulmonary systemic artery. ...

http://bit.ly/2rPoYX6

A 5-Year-Old Case of Choroidal Neovascularization in Enhanced S-Cone Syndrome Treated with Ranibizumab

Introduction: We describe the youngest case of enhanced S-cone syndrome (ESCS) associated with choroidal neovascularization (CNV) successfully treated with intravitreal ranibizumab injections. Case Report: A 5-year-old boy presented with round-shaped fibrotic subretinal lesions in both eyes with surrounding subretinal fluid and progressive visual deterioration in the right eye. Fine foci of increased autofluorescence were observed along the arcades in both eyes. Fluorescein angiography revealed the presence of CNV in his right eye, and treatment with ranibizumab was initiated, with significant improvement in vision. Subsequent electroretinogram examination and genetic studies of the patient and his two younger siblings confirmed the diagnosis of ESCS. Conclusion: CNV has been reported to occur in different inherited retinal degenerations, including ESCS. Our experience confirms that treatment with ranibizumab in patients with CNV-complicated ESCS can be potentially vision-saving.
Case Rep Ophthalmol 2018;9:510–515

http://bit.ly/2Lvt6F1

Exudative Type 3 Retinal Arteriovenous Malformation in a Pediatric Patient

We describe a 7-year-old girl who developed exudation nasally to the right optic disc due to retinal arteriovenous malformation. Fluorescein angiography, spectral domain optical coherence tomography, and optical coherence tomography angiography were performed. We give an overview of the different imaging techniques and discuss the differential diagnosis. Since there was no visual impairment, no treatment was started. A spontaneous decrease in edema and exudation was noted after 6 months.
Case Rep Ophthalmol 2018;9:504–509

http://bit.ly/2rNeS98

Osteoclast-like giant cell tumor of the pancreas—an unusual presentation in a patient with large mantle cell lymphoma

Abstract

Osteoclast-like giant cell tumor of the pancreas is very rare. We report a 78-year-old male who was previously treated for large mantle cell lymphoma, was found to have an increased uptake in a peri-pancreatic node from his restaging PET scan. Endoscopic ultrasound-directed fine-needle aspiration of the mass and lymph node revealed an undifferentiated carcinoma with osteoclast-like giant cells. Osteoclast-like giant cell tumors of the pancreas are frequently found to be unresectable at diagnosis due to their large size (>5 cm). In our patient, due to its small size (<3 cm) sub-total pancreatectomy was performed. Three years from the surgery, the patient is doing well without recurrence. This case report intends to increase provider awareness that in the setting of new pancreatic lesions in a patient with previous history of lymphoma, a high index of suspicion for a primary pancreatic lesion should be included in the differential diagnosis.

http://bit.ly/2SgDjrs

A unique case of xanthogranulomatous cholecystitis complicated by multiple liver abscesses and portal vein and hepatic artery thrombosis and occlusion

Abstract

Xanthogranulomatous cholecystitis (XGC) is difficult to diagnose preoperatively because it often mimics gallbladder cancer. We present a case of a 64-year-old Caucasian male who presented with multiple intrahepatic abscesses, left portal vein and segmental right hepatic arterial thrombosis suspicious for extrahepatic cholangiocarcinoma who ultimately underwent an extended left hepatectomy and was noted to have XGC on final pathology. This case presents a new challenge in diagnosing XGC prior to final pathology results given the unique left portal vein, and later, right anterior portal vein thrombosis and occlusion. XGC should be in the differential diagnosis when diffuse gallbladder wall thickening is associated with involvement of biliary and vascular structures. While diagnosing these cases can be challenging, increased awareness of varied involvement of the liver and hilar structures associated with this diseases process may aid in the selection of the most appropriate surgical techniques.

http://bit.ly/2A6gMGA

An unexpected extra-gastrointestinal stromal tumor (E-GIST) on the jejunal mesentery

Abstract

Extra-gastrointestinal stromal tumors (E-GIST) are group of soft tissue neoplasm, which originates from outside the gastrointestinal tract and comprises less than 5% of the total GIST. Most commonly, they originate from the omentum, mesentery, retroperitoneum or the solid organs like liver and the pancreas. E-GIST arising from the sac of the jejunal mesentery, and mimicking preoperatively as a colonic neoplasm is very rare. Here we report an interesting case of a 55-year-old male, who presented with pain abdomen for 4 months duration. Contrast enhanced computed tomography was suggestive of right colonic neoplasm. Intraoperatively, to our surprise, the tumor was seen arising from the mesentery of the jejunum and was resected.

http://bit.ly/2SdRP37

Cured by Da Vinci Xi: meticulous dissection of an infected urachal cyst presenting with lower urinary tract symptoms in an adult

Abstract

An unusual finding in an adult patient with an infected urachal cyst, was treated surgically using the Da Vinci robot. A 26-year-old woman was admitted to our hospital with complaints of lower abdominal pain and burning sensation with urination. She was diagnosed with lower urinary tract infection, treatment did not help her symptoms and further evaluation of CT revealed complex enhancing mass superior to the urinary bladder. The differentials included inflammatory cause such as an abscess, neoplastic mass, urachal cyst, vitello intestinal fistula and urachal sinus. Da Vinchi robotic diagnostic laparoscopy was performed to obtain an accurate assessment and treatment. After cystoscopy followed by laparoscopic exploration of the abdominal and pelvic cavity further helped to narrow down a diagnosis of remnants of urachus. Pathology of the excised specimen showed inflammation without evidence of malignancy and confirmed Urachal cyst. The patient had an uneventful post-operative course.

http://bit.ly/2A6gNKE

Λαμπερά Χριστούγεννα κοντά σε αυτούς που αγαπάς,με υγεία και μια μεγάλη αγκαλιά για όλους !

Higher level of serum homocysteine could be used as a biomarker for Polycystic ovary syndrome (PCOS)

homocysteine in diagnosed cases of polycystic ovary syndrome p. 291
Rojeen Rasheed Suleiman, Dhia Mustafa Sulaiman
DOI:10.4103/MJBL.MJBL_94_18  
Background: Polycystic ovary syndrome (PCOS) is an endocrine disorder characterized by an ovulatory infertility, menstrual dysfunction, and hirsutism. The pathophysiology behind PCOS is complex. Comorbidities associated with PCOS are hypertension, diabetes, dyslipidemia, and cardiovascular events. Objective: The aim of this study was to estimate the level of homocysteine in women with PCOS. Materials and Methods: In the current case–control study, 50 female patients diagnosed with PCOS and 40 apparently healthy controls were recruited. The diagnosis of PCOS was established according to Rotterdam criteria. The serum homocysteine level was measured using Cobas 6000 and compared between two study groups. Results: Results found that high percentage of patients in the case group had abnormal level of homocysteine (74.0%) compared to control with normal level of homocysteine. Mean homocysteine level was significantly higher in patients with PCOS (17 μmol/L) compared to its level in control patients (9 μmol/L), P < 0.0001. Results also revealed that the mean levels of homocysteine between the body mass index categories and marital status showed no significant difference in cases and controls, P > 0.05. Conclusions: The present investigation suggests that higher level of serum homocysteine could be used as a biomarker for PCOS.
http://www.medjbabylon.org/currentissue.asp?sabs=y

Anti-müllerian hormone level in patients with polycystic ovary syndrome

Anti-müllerian hormone level in patients with polycystic ovary syndrome p. 295
Salar Mohammed Saadullah, Dhia Mustafa Sulaiman
DOI:10.4103/MJBL.MJBL_98_18  
Background: Polycystic ovary syndrome (PCOS) is one of the common causes of chronic anovulation and hyperandrogenism in women between the age of 13 and 45 years old. PCOS is characterized by an increased number of follicles at all growing stages particularly in the preantral and small antral follicles, those who primarily produce Anti-Müllerian hormone (AMH). Objective: The aim of the study is to measure the AMH levels in serum of the women with PCOS. Materials and Methods: The study included 90 women (50 cases with PCOS and 40 control cases healthy women). PCOS patients were diagnosed according to the Rotterdam definition; serum AMH was measured using the ultrasensitive AMH enzyme-linked immunosorbent assay. Results: Mean serum of AMH in PCOS patients was 11.52 ng/ml and for the control group was 3.36 ng/ml and was statistically significant with the P < 0.0001. Conclusions: AMH is elevated in PCOS patients, which can be used in the future as a marker for the diagnosis of PCOS.
http://www.medjbabylon.org/currentissue.asp?sabs=y

Sutureless focus harmonic thyroidectomy

Sutureless focus harmonic thyroidectomy versus conventional clamping and knot-tying technique p. 300
Ibrahim Falih Noori, Mansour Amin Mohammad
DOI:10.4103/MJBL.MJBL_45_18  
Background: Thyroidectomy is the most frequent procedure in endocrine surgery. Since thyroid is the highly vascular organ, therefore, prompt and meticulous hemostasis is extremely important. Although conventional thyroidectomy is used frequently with acceptable outcomes, it is time-consuming and resulted in significant intraoperative blood loss with possible risk of injury to parathyroid glands and laryngeal nerves. The advent of ultrasonically activated focus harmonic device in thyroid surgery was encouraging for improving safety, effectiveness, and reduction of operative time. Aim of this Study: The purpose of this study was to analyze the effectiveness and surgical outcomes of using ultrasonic harmonic scalpel for thyroid surgery compared to conventional techniques (clamping and suture ligation (knots tying) and electrocautery. Patients and Methods: This is a prospective, randomized study in which 64 patients with various types of goiters presented for thyroidectomy. The patients were divided into two comparable groups. Group A (32 patients) included patients who had focus harmonic thyroidectomy and Group B (32 patients) included patients who received conventional thyroidectomy. Results: Focus harmonic thyroidectomy showed significant reduction in operative time, intraoperative blood loss, volume of postoperative fluid drainage, and postoperative pain scores compared with conventional thyroidectomy. There were no significant differences in the incidence of postoperative hypocalcemia and laryngeal nerve injury between both the groups. The total cost of focus harmonic thyroidectomy and hospital stay were also less compared with conventional techniques. Conclusions: Focus harmonic thyroidectomy was a safe, effective, faster, and beneficial alternative to conventional technique since it reduces the time of surgery, blood loss, postoperative drainage, and pain with comparable postoperative complications.
http://www.medjbabylon.org/currentissue.asp?sabs=y

Orbital tumors

: A prospective study of 95 cases p. 334
Mohammed Jaber Al-Mamoori
DOI:10.4103/MJBL.MJBL_69_18  
Background: A wide variety of tumors and pseudotumors can involve the orbit. Although the incidence of orbital tumors is relatively low, the diagnosis and the treatment strategy for such tumors are of great concern to neurosurgeons and ophthalmologists. Objectives: The main aim of this study is to determine the distribution of patient age, sex, pathology, origin, and location of orbital tumors for optimum management because the delay in the diagnosis and treatment is the most preventable cause of morbidity and mortality. Materials and Methods: In this study, 95 cases of orbital tumors are studied prospectively during 10 years' period in the Hilla Teaching Hospital in Babylon-Iraq from 2008 to 2018. The parameters dealt with in this study included; the distribution of patient age and sex, clinical manifestations, investigations, pathology, origin of tumors and tumor location in the orbit, management, surgical procedures, and mortality in 95 patients (aged from 6 months to 75 years, the mean age is 29.8). Results: In this study, the highest age group incidence of orbital tumors is in the first decade of life which constitutes (24.2%), the second peak is in the fourth decade of life which constitutes (17.9%). 42 (44.2%) of the patients are males and 53 (55.8%) of the patients are females. Among the 95 cases, 76 (80%) are primary orbital tumors, 15 (15.8%) are secondary orbital tumors (tumors that originating from contiguous regions), and 4 (4.2%) are metastatic orbital tumors. Orbital tumors location; 83 (87.4%) are extraconal and 12 (12.6%) are intraconal. The two most common orbital tumors are dermoid cyst (27.4%) and pseudotumor (16.8%). Overall mortality is seven patients (7.4%). Conclusion: Orbital tumors are a relatively rare and challenging group of tumors. The age of onset, state of vision, tumor location in the orbit and other radiological findings provide the most important information for the diagnosis of orbital tumor prior biopsy or surgical resection and to make decision about other further treatment modality. For any patient complain from visual loss, proptosis, and impaired ocular motility, it is better to undergo magnetic resonance imaging and computed tomography-scan imaging to detect or exclude intraorbital or intracranial diseases.
http://www.medjbabylon.org/currentissue.asp?sabs=y

Role of hepcidin in hearing loss

 p. 376
Sami R Al-Katib, Yasir L Hasson, Rawaa H Shareef
DOI:10.4103/MJBL.MJBL_106_18  
Background: Hearing loss is considered as a public health problem that affects the population at all ages. Hepcidin is an important protein with a crucial role in the homeostasis and metabolism of iron. Objective: The objective of this study was to evaluate the association between hepcidin and hearing loss and to find out the mechanisms that lead to this association. Materials and Methods: A total of 300 persons included in this study, 150 as a patients' group who are suffering from hearing loss and attended Al-Sadder Teaching Hospital in Al-Najaf Al-Ashraf City, Iraq, while the other 150 participants who are selected randomly as controls' group and are free from hearing loss.  The ages of all participants ranged between 18 and 70 years, and controls were matched with patients by gender and age (within 5 years). Many parameters are measured such as hepcidin, C-reactive protein (CRP), interleukin-6 (IL-6), advanced glycation end products (AGEs), and glutathione peroxidase-3 (GPX-3). Results: The results of this study revealed that sensorineural hearing loss was the most common type followed by mixed one.  Furthermore, it was shown that hepcidin and CRP were significantly higher in patients compared with controls, while there were no significant differences between patients and controls in the levels of IL-6, AGEs, and GPX-3.  The correlation analyses showed a significant positive correlation between hepcidin and CRP and hepcidin and IL-6. Conclusion: Hepcidin and CRP have a negative impact on hearing, increase significantly with hearing loss, and have role in the development of hearing loss.
http://www.medjbabylon.org/currentissue.asp?sabs=y