scholarly journals A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

2015 ◽  
Vol 30 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Aisha Al-Sinani ◽  
Waad-Allah Mula-Abed ◽  
Manal Al-Kindi ◽  
Ghariba Al-Kusaibi ◽  
Hanan Al-Azkawi ◽  
...  
2015 ◽  
Vol 13 (3) ◽  
pp. 417-419 ◽  
Author(s):  
Dani Ejzenberg ◽  
Lucienne Pereira Del Grossi Neusquen ◽  
Daniel Lorber Rolnik ◽  
Adriana Chebar Lozinsky ◽  
José Roberto Morales Piato

The coumadin-induced skin necrosis is rare and occurs more frequently in the breasts, thighs and buttocks. We describe the first case of coumadin necrosis of the breast in Brazil in a 62-year-old patient.


2021 ◽  
Vol 14 (8) ◽  
pp. e241613
Author(s):  
Vaishnavi Divya Nagarajan ◽  
Asha Shenoi ◽  
Lucy Burgess ◽  
Vlad C Radulescu

An 18-year-old man with a history of type 3 von Willebrand disease (VWD) presented with a spontaneous pyohaemothorax. Type 3 VWD may present with both mucocutaneous and deep-seated bleeds, such as visceral haemorrhages, intracranial bleeds and haemarthrosis. There have been very few cases described in children of spontaneous pyohaemothorax. Management of this patient was challenging due to risks of bleeding following surgical drainage, requiring constant replacement with von Willebrand factor concentrate, while monitoring factor VIII levels to balance the risks of thrombosis.


2014 ◽  
Vol 8 (3-4) ◽  
pp. 276 ◽  
Author(s):  
Kamaljot Singh Kaler ◽  
Rebekah Rittberg ◽  
Darrel Edmond Drachenberg

Renal angiomyolipoma (AML) is predominantly a non-aggressive benign tumour. Cases of more aggressive AMLs are present in the literature. We present 2 cases of aggressive AML behaviour. The first case is an AML with vascular extension in a young female and the second case is of AML found in regional lymph nodes in a female with a left renal AML and renal cell carcinoma.


2020 ◽  
Vol 77 (19) ◽  
pp. 1578-1584 ◽  
Author(s):  
Farah Khorassani ◽  
Frances Sousonis ◽  
Leonardo V Lopez

Abstract Purpose A case of hepatotoxicity likely due to use of risperidone and paliperidone is reported. Summary A 23-year-old man with schizophrenia was admitted to an inpatient psychiatric unit after an exacerbation of mental illness secondary to medication nonadherence. During 13 days of treatment with risperidone, the patient’s liver enzyme levels rose sharply, so antipsychotic therapy was switched to oral paliperidone. After a 5-day downward trend in liver enzyme levels, a dose of intramuscular paliperidone was administered to augment oral paliperidone therapy. After 10 days of paliperidone use, abnormally high liver enzyme levels were again noted; both oral and intramuscular paliperidone therapy were discontinued and haloperidol was initiated, with complete resolution of liver enzyme abnormalities within approximately 4 weeks. Scoring of this case using the algorithm of Naranjo et al indicated probable associations between risperidone use and hepatotoxicity (a score of 7) and paliperidone use and hepatotoxicity (a score of 8). To our knowledge, this is the first case report describing a patient who developed hepatotoxicity during risperidone use that did not remit with a switch to paliperidone therapy. Conclusion Findings of this case suggest that patients who develop hepatotoxicity with use of risperidone may also do so with paliperidone use; this, in turn, suggests that both risperidone and its metabolite are capable of causing hepatotoxicity. Patients who develop hepatotoxicity in response to risperidone or paliperidone therapy may benefit from treatment with an alternative antipsychotic with a different chemical structure.


Author(s):  
Korcan Demir ◽  
Melek Yıldız ◽  
Özlem Nalbantoğlu Elmas ◽  
Hüseyin Anıl Korkmaz ◽  
Selma Tunç ◽  
...  

AbstractWe report two newborns with female external genitalia and bilateral inguinal swelling who were diagnosed with 17β-hydroxysteroid dehydrogenase type 3 deficiency, a rare cause of 46,XY disorder of sexual development. The first case had normal clitoral size and vaginal and urethral openings, palpable gonads in the inguinal region, low testosterone, and low levels of basal and GNRH-stimulated gonadotropin. The second case had similar external genitalia, low testosterone but borderline basal and normal stimulated gonadotropin levels. Low testosterone/androstenedione ratios (0.22 and 0.24, respectively; normal, >0.8) after human chorionic gonadotropin stimulation indicated 17β-hydroxysteroid dehydrogenase type 3 deficiency.


2020 ◽  
Vol 6 (2) ◽  
pp. 16-18
Author(s):  
Mohammed A. Naseer ◽  
◽  
Sharif A. W. Al Aryadh ◽  
Ravi M. Pedapenki ◽  
◽  
...  

Arterial embolization is used as one of the palliative procedure in the control of bleeding. We have demonstrated this procedure to be effective in the control of the bleeding in various malignancies in our center. This is our first case report in a teenaged nasopharyngeal cancer patient who had exhausted all his treatment as he had progressive disease and recurrent bleeding episodes from the recurrent neck nodal mass. This was controlled well with arterial embolization with no significant side effects.


2020 ◽  
Vol 15 (1) ◽  
pp. 210
Author(s):  
SeyadAli Mousavinejad ◽  
Mohammad Samadian ◽  
Shahrokh Khoshsirat ◽  
Mahmood Dehghan ◽  
Guive Sharifi ◽  
...  

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