Right ventricular (RV) hypoplasia may develop secondary to pulmonary or tricuspid valve atresia. These patients are usually symptomatic early in life and need prompt intervention. Isolated RV hypoplasia is a rare congenital heart disease. We report a case of 23-year-old twins who have been monitored for the last 14 years for isolated right ventricular hypoplasia. ECHO and MRI studies showed a small, heavily trabeculated, nonapex-forming RV and mild tricuspid valve insufficiency. The girl has a patent foramen ovale (PFO). Otherwise, the cardiac anatomy and function was normal. They have both been completely asymptomatic from the cardiac standpoint. The family history is remarkable for death of father at the age of 30 years with autopsy suggestive of a hypoplastic RV. The paternal uncle also died at the age of 46 years, and his son has an unidentified congenital heart disease. The family history appears to suggest an autosomal dominant pattern of inheritance with variable expressivity. However, the chromosome microarray analysis of the twins did not identify any variations of clinical significance.
http://bit.ly/2W6wg6X
Cancer Medicine by Alexandros G.Sfakianakis,Anapafseos 5 Agios Nikolaos,Crete 72100,Greece,tel :00302841026182 & 00306932607174
Κυριακή 20 Ιανουαρίου 2019
Asymptomatic Right Ventricular Hypoplasia in Twin Siblings: A Normal Variant or Cause of Early Mortality?
Potential life-threatening complication of tonsillectomy: cervicofacial surgical emphysema
A 30-year-old woman presented to the accident and emergency department 3 days post-tonsillectomy with bleeding from the tonsillar fossa and left-sided facial swelling. The patient denied any dysphagia or breathing difficulties but experienced pain on neck movement. On examination, although the bleeding had stopped on reaching the emergency department, a small clot was noted in her left tonsillar fossa. A left facial/submandibular swelling was seen, which had been present since her operation and was slowly enlarging. Flexible nasendoscopy showed a mild left sided oropharyngeal swelling but was otherwise normal. She was treated initially with antibiotics and hydrogen peroxide gargles. After 24 hours of observation and a slight worsening of the swelling she underwent a CT of the neck. This showed widespread indurated subcutaneous surgical emphysema, originating from the left tonsillar bed. Following a period of observation and improvement in her symptoms, she was discharged home with safety netting.
http://bit.ly/2RVSE3M
Novel intronic DICER1 variation associated with pleuropulmonary blastoma in two siblings
Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies associated with DICER1 variants. We present two cases, a 2-year-old girl with upper respiratory tract symptoms as well as a 6-month-old girl sibling undergoing screening due to family history of malignancy. Imaging of the 2-year-old girl revealed a large mass filling the right hemithorax which was determined to be a type II PPB after pathological examination. Imaging of the 6-month-old sibling demonstrated a small cystic lesion in the posterior basal segment of the right lower lobe which was determined to be a type 1r PPB after pathological examination. The 2-year-old girl received adjuvant chemotherapy while the baby sister underwent resection alone and both are alive and well at 12 months and 7 months, respectively. Sequence analysis in both cases confirmed the same DICER1 variation, c.2437-2A>G (likely pathogenic), which has not been previously described in the literature.
http://bit.ly/2RXzlH1
Recurrent vulvar melanoma in a patient with neurofibromatosis and gastrointestinal stromal tumour
We report a case of a 51-year-old woman with neurofibromatosis who presented in 2012 with postmenopausal bleeding. Excision biopsy of a pigmented lesion of the labia minora was consistent with an ulcerated vulvar BRAF wild type malignant melanoma (MM). Initial excision was followed by radical vulvectomy and adjuvant interferon. Local recurrence in January 2017 was further resected. Positron emission tomography (PET)-CT in May 2017 identified an FDG avid omental deposit; consistent histologically with MM when resected. Postoperative PET-CT in August 2017 demonstrated local recurrence. In the setting of resected stage IV disease and a third local recurrence, the decision was made to instigate immunotherapy. Vulvar melanoma is rare accounting for 0.2% of all melanoma. Presentation is typically a decade later than cutaneous melanoma with a tendency to late metastases and poorer prognosis. Given their rarity the treatment paradigm is less clearly defined and largely extrapolated from that of cutaneous melanomas.
http://bit.ly/2HpsIcB
Clear cell, giant myoepithelioma of tongue base: a diagnostic and surgical challenge
Clear cell variant is a rare histological type of myoepithelioma seen in parotid and soft palate. This article describes clear cell variant of myoepithelioma in the tongue base, which has not been reported in the literature so far. A 34-year-old man presented with dysphagia and foreign body sensation of throat. Video laryngostroboscopy using a 70° rigid telescope showed a smooth globular mass in the oropharynx arising from the tongue base. Based on clinical and radiological findings, the lesion was considered as benign. Fine needle aspiration cytology was not attempted fearing risk of bleeding, aspiration and airway compromise. Hence, an excisional biopsy followed by definitive histopathological examination without frozen section was planned. The patient underwent coblator-assisted excision and subsequently sent for histopathological analysis. There were cuboidal cell nests with abundant clear cytoplasm which stained positive for p63 by immunohistochemistry. This helped in establishing the diagnosis of clear cell myoepithelioma.
http://bit.ly/2sBpuIC
Successful treatment of stage III hidradenitis suppurativa with botulinum toxin A
A 41-year-old obese Native American woman presented with hidradenitis suppurativa (HS) after failing all available treatment options. Her HS was more pronounced in the axillary and groin regions (Hurley stage III) and was a major source of her pain and a barrier for home exercise and aquatic therapy. She received a botulinum toxin A injection every 3 months (four times thus far), which has significantly helped alleviate her pain and curb the progress of her HS by resolving abscesses and healing draining sinuses.
http://bit.ly/2sA7uOZ
Managing psychotic depression and diagnostic uncertainty in liaison psychiatry
A middle-aged woman presented with a history of symptoms of depression with psychotic features severely affecting her physical health. Neuroimaging of her brain suggested pathological changes out of keeping with her age, leading to further investigations including genetic testing for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis was also considered as a differential diagnosis as an initial serum test for anti-NMDAR autoantibodies was positive. Her symptoms resolved following treatment with electroconvulsive therapy. Despite her initial neuroimaging, her genetic test for CADASIL was negative and her subsequent test for anti-NMDAR autoantibodies was negative, suggesting that the initial test may have been a false positive.
http://bit.ly/2MmzLSe
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various factors and stressful events. We report 8 Lebanese cases referred for molecular analysis of the SCN1A gene. Results were positive in 7 cases and revealed de novo variants at the heterozygous state in different exons of the gene for all except one, where the variant was intronic. Four variants were novel. Confirmation of Dravet syndrome is important for a better follow-up and treatment, preventing the occurrence of status epilepticus and severe neurological deterioration.
http://bit.ly/2W7QBIQ
A Rare Case of Spontaneous Hemorrhage in a Giant Accessory Spleen in a Child
Accessory spleen (AS) is a condition found in about 20% of patients and is most commonly located in the hilar region of the spleen. It is more often asymptomatic, single, and smaller than 2 cm. In the present study, we report the rare case of a 13-year-old boy with giant accessory spleen underwent spontaneous intrasplenic hemorrhage who presented with recurrent abdominal pain. Contrast-enhanced MRI was mandatory for the diagnosis before surgical procedure.
http://bit.ly/2DoMzof
Status epilepticus induced by treatment with dopamine agonist therapy for giant prolactinoma: a case report
Dopamine agonists are the standard first-line medical therapy for prolactinoma. We report a rare case of giant prolactinoma with a first epileptic seizure due to rapid reduction of the tumor as a complication ...
http://bit.ly/2FFBf9E
A Rare Occurrence of Isolated Brain Metastases from Gastric Cancer
Background. Gastric cancer is the fourth most common cancer worldwide and the second most common cause of cancer-related death. The majority of newly diagnosed gastric cancer cases present either as locally advanced tumor growth or with distant metastases. Case Report. Here, we describe a case of isolated brain metastases in a male patient with gastric cancer. Initially, our patient presented with dysphagia and was diagnosed with gastric cancer after a thorough evaluation. One year after chemotherapy and surgical resection of his gastric cancer, he presented with headaches, nausea, dizziness, and photophobia. Further evaluation of these symptoms led to the discovery of three metastatic brain lesions without evidence of extracranial metastases. Conclusions. Our review of the literature has found that such cases are rare. Additionally, our review of the literature demonstrates the poor outcomes associated with metastatic brain lesions from gastric cancer and highlights the importance of surgical resection in increasing overall survival time.
http://bit.ly/2Dn4LP2
45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype
The phenotypic spectrum of 45,X/46,XY mosaic males varies greatly. Previous reports have only described cases with either oligozoospermia, growth retardation, or elevated gonadotropins. However, the present case presented with normozoospermia, and normal height, sperm DNA fragmentation index (DFI), and gonadotropins. The male and his spouse were referred to The Fertility Clinic, Skive Regional Hospital, due to 2 years of infertility. After failure of several attempts of assisted reproductive treatment (ART), the male underwent genetic analysis. Conventional karyotyping in peripheral lymphocytes yielded a low-grade 45,X/46,XY mosaicism, confirmed by fluorescence in situ hybridization (FISH) showing 6% 45,X cells. A FISH test performed on interphase nuclei from buccal mucosal cells yielded one cell with only one X-signal (0.6%), explaining the normal phenotype of the patient, but not the infertility. FISH test for sperm aneuploidy showed normal range parameters, except for a 10-fold elevated gonosomal nullisomy rate (2.1%). Hence, germinal mosaicism may be an explanation of the infertility of the case. Increased sex nullisomy levels may reflect an aberrant testicular environment compromising fertility even though sperm euploidy rates and other sperm parameters do not preclude a successful treatment with ART. Based on these results, the couple decided to use donor semen for their subsequent intrauterine insemination treatment and obtained a successful pregnancy.
http://bit.ly/2FGqBQb
ΒΟΗΘΗΜΑΤΑ ΑΚΟΗΣ,ΑΚΟΥΣΤΙΚΑ ΒΑΡΗΚΟΙΑΣ,ΕΝΙΣΧΥΤΕΣ ΑΚΟΗΣ
Εφαρμόζονται πίσω από το αυτί και συνδέονται με το κατάλληλο εκμαγείο
Ενδοκαναλικά
Αθέατα,Είναι μικρότερα σε μέγεθος και εφαρμόζονται μέσα στον ακουστικό πόρο.
Καθαρή και διαυγή μετάδοση της φωνής των συνομιλούντων
Έξυπνη φραγή των θορύβων
Άριστη ποιοτική ενίσχυση και απόδοση του ήχου,εύκολα στη χρήση,άνετα στην εφαρμογή,όμορφα για καλύτερη αισθητική όσο αφορά το μέγεθος και την εξωτερική εμφάνιση,χωρίς καμμία ιδιαίτερη συντήρηση.
Ενδοωτιαίο Ακουστικό Βοήθημα με ελεγχόμενη ένταση,
Ενδοωτιαίο Ακουστικό Βοήθημα Υψηλής Πιστότητας,
Ενδοωτιαίο Ακουστικό Βοήθημα Δώρο Χαράς Σε Όσους Αγαπάτε και Φροντίζετε,
Ενδοωτιαίο Ακουστικό Βοήθημα με πιστοποίηση γνησιότητας και ποιότητας,
Ενδοωτιαίο Ακουστικό Βοήθημα υποαλλεργικά άριστης εφαρμογής,
Ενδοωτιαίο Ακουστικό Βοήθημα όμορφα μικρά αόρατα με άριστες αποδόσεις,
Ενδοωτιαίο Ακουστικό Βοήθημα όμορφα μικρά αόρατα με άριστες αποδόσεις για μεσαίες εως υψηλές βαρηκοΐες,
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Οπισθοωτιαίο Ακουστικό Βαρηκοίας υψηλής ποιότητας,
Οπισθοωτιαίο Ακουστικό Βαρηκοίας υψηλής ποιότητας επαναφορτιζόμενο,
Οπισθοωτιαίο Ακουστικό Βαρηκοίας υψηλής ποιότητας επαναφορτιζόμενο με έξυπνη φραγή όλων των θορύβων,
Οπισθοωτιαίο Ακουστικό Βαρηκοίας υψηλής ποιότητας επαναφορτιζόμενο με μπαταρία μακράς διάρκειας,
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Οπισθοωτιαίο Ακουστικό Βαρηκοίας υψηλής ποιότητας επαναφορτιζόμενο με έξυπνη φραγή όλων των θορύβων με επεξεργαστή IC Extra Low Noise με μπαταρία μακράς διάρκειας και γρήγορης φόρτισης,
Οπισθοωτιαίο Ακουστικό Βαρηκοίας υψηλής ποιότητας επαναφορτιζόμενο με μπαταρία μακράς διάρκειας 12 εως 18 ωρών φόρτιση σε θύρα USB,
Οπισθοωτιαίο Ακουστικό Βαρηκοίας υψηλής ποιότητας επαναφορτιζόμενο με έξυπνη φραγή όλων των θορύβων με επεξεργαστή IC Extra Low Noise με μπαταρία μακράς διάρκειας και γρήγορης φόρτισης 5γρ εύκολη χρήση,
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