Moyamoya syndrome associated with sickle cell trait in a child

Moyamoya syndrome is a chronic, progressive occlussion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyamoya syndrome associated with sickle cell trait. To date, two such cases have been reported in the literature. As far as we know, this patient is the first child reported.     

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.Methods:Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of WFS1. Mutations were classified according to results of “in silico” analyses, protein prediction, and functional consequences.Results:Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in WFS1. All mutations were predicted to cause stop codon leading to early termination of protein synthesis and complete loss-of-function. All patients were found to be homozygous for the change, with parents and other unaffected siblings being carriers.Conclusion:Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees.     

Using two-holed needles for both arterial and venous accesses to the arteriovenous fistula to improve flow during hemodialysis

This prospective study compared methods using both arterial and venous needles with back eyes with those using only arterial needle with back eye for arteriovenous fistula cannulation. Sixty-one patients receiving hemodialysis (HD) via an arteriovenous fistula were evaluated. All patients underwent arteriovenous fistula puncture using only arterial needle with back eye in first 3 months and both arterial and venous needles with back eyes in following 3 months. Arterial and venous pressures, blood flow velocities, total blood volume cleared, and Kt/V values were compared. Mean blood flow velocity, arterial pressure, Kt/V, and cleared total blood volume values were higher and venous pressure was lower in patients who underwent cannulation using both needles with back eyes than in those with only the arterial needle with back eye. For arteriovenous fistula cannulation, using both arterial and venous needles with back eyes provides adequate HD more successfully.     

Pharmacological profile of survivors of acute myocardial infarction at Turkish academic hospitals

AIM: The purpose of this study was to document treatment profiles in 850 patients surviving acute myocardial infarction at 17 academic hospitals in Turkey. METHODS AND RESULTS: Pharmacological management data of acute myocardial infarction survivors were collected and divided into three categories: drugs which patients received before hospitalization, during the hospitalization, and at hospital discharge. Data regarding medical history, complications during hospitalization, MI extent (Q wave or non-Q wave), infarct location and diagnostic and revascularization procedures were also recorded. This study is based on the 850 patients who met the diagnostic criteria for initial acute MI in the period examined. Among 850 patients with myocardial infarction enrolled 408 (48%) received thrombolytic therapy. The median time interval from symptom onset to initiation of thrombolytic therapy was 196 min. The most commonly used thrombolytic agent was streptokinase (93%). Thrombolytic recipients were younger, and presented sooner after onset of symptoms. Among patients receiving thrombolytic therapy, concomitant pharmacotherapy included aspirin (95%), intravenous heparin (93%), intravenous nitroglycerin (91%), oral beta-blockers (44%), calcium channel antagonists (13%), and angiotensin converting enzyme inhibitors (41%). The lipid lowering therapy was only used in 4% of all patients, and was given to 18% of patients with hyperlipidemia. CONCLUSION: Current usage rates of thrombolytic therapy in Turkey are lower than expected, but when compared with previous reports it increased. Although adjunctive treatment with intravenous heparin and intravenous nitroglycerin is usually used, beta-blockers appear to be underused and calcium channel blockers appear to be overused. The lipid reducing therapies were infrequently prescribed.     

Treatment in patients with low traumatic pneumothorax ratio

Thoracostomy tube placement (TT) is currently one of the most important treatment modalities used in traumatic pneumothorax patients. In patients with low pneumothorax ratio (percentage), both follow-up without surgery and employing intervention when indicated may be appropriate choice. We presented the outcome of patients with low traumatic pneumothorax ratio treated by follow up without surgical intervention in our clinic. During the period from January 2000 until January 2002, 108 patients who were treated and followed with low percentage traumatic pneumothorax in Ankara Numune Hospital Thoracic Surgery Clinic were allocated into three groups due to blunt trauma of the thorax, penetrating-cutting instrument injury and gunshot injury. All patients were admitted to the clinic with the purpose of observation without surgical intervention and chest roentgenograms were taken at the sixth and twelfth hours and daily thereafter. TT was performed for 46 (43%) patients whose pneumothorax ratio increased during the observation period. TT was more frequent in patients with 20% percentage pneumothorax (69%) as well as with two or more fractured ribs (69%). Follow-up without surgical intervention may one of the appropriate modes of treatment in patients who have minimal traumatic pneumothorax.     

Malnutrition,associated clinical factors,and depression in systemic sclerosis: a cross-sectional study

Clinical Rheumatology - The aim of this study was to evaluate the associations between malnutrition and the clinical features of the disease and depression in patients with systemic sclerosis...     

Ovarian torsion in puerperium: A case report and review of the literature

INTRODUCTION

Ovarian torsion (OT) is a rare cause of acute abdominal pain that requires prompt recognition and treatment during puerperium. Diagnosis of OT can be challenging due to nonspecific clinical features and uncommon objective findings. The management of OT is often delayed because of diagnostic uncertainty. Early and timely recognition and prompt intervention are crucial to preserve ovarian function and to minimize morbidity.

PRESENTATION OF CASE

We report a 29-year-old postpartum woman who presented to the emergency department (ED) with severe right flank pain, nausea and anorexia initially considered as renal colic. After further investigation, OT caused by large mucinous cyst was diagnosed. Right-sided salpingo-oophorectomy was performed due to hemorrhagic ovary and huge cystic mass causing ischemic OT.

DISCUSSION

OT is often diagnosed based on the clinical presentation, including severe, sharp, sudden onset of unilateral lower abdominal pain and tenderness with a palpable laterouterine pelvic mass and nausea/vomiting. Emergency surgical intervention should be performed if OT is suspected to confirm the diagnosis and uncoil the twist to prevent ovarian damage.

CONCLUSION

In conclusion, emergency physicians should be aware of the possibility of OT in postpartum women. Therefore, early and timely surgical intervention should be undertaken.