Sanjad Sakati syndrome: a case series from Jordan

Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp [155-166 del] deletion within the tubulin-specific chaperone E [TBCE gene] in exon 3 at lq42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan

predictive value of admission serum glucose and glycosylated haemoglobin [HbA1C] in patients presenting with acute myocardial infarction [AMI]: short term outcome

Recent data indicated a high prevalence of abnormal glucose metabolism in patients with no history of diabetes mellitus [DM] at the time of acute myocardial infarction [AMI]. The aim of this retrospective study was to assess the predictive value for clinical outcome for admission hyperglycemia in patients presenting with acute ST-elevation myocardial infarction [STEMI]. Other risk factors such as history of DM, hypertension, Body Mass Index [BMI], smoking, serum level of glycosylated haemoglobin [HbA1c] and low density lipoprotein [LDL] were evaluated. The data of two hundred and eighty five [285] patients with STEMI was extracted and evaluated retrospectively. Patients were classified according to admission serum glucose [AG] into three groups: Group 1 with AG level of <=7 mmol/L and group 2 with AG level between >7 and <15 mmol/Land group 3 of AG >/= 15 mmol/L. In the study group the mean age was 59.7 +/- 14 years, range [24-88] and 180 [63%] were male. 173 [60%] patients with STEMI had hyperglycemic with glucose of more than 7 mmol/L with or without history of DM, eighty four [29%] patients had hyperglycemia and history of DM,89 [31%] patients had hyperglycemia [stress] without DM. Thirty two percent had history of hypertension and 26% had history of smoking. The frequency of more than two Major Acute Cardiac Events [MACE] such as pulmonary odema, significant arrhythmias, or cardiogenic shock were at frequency of 70% in group 3.19% in group 2, and 11% in group 1. Thirty patients died during the study [10.5%]: twelve patients [4.2%] were in group 3, eleven patients [3.9%] in group 2 and seven [2.4%] in group 1. The odds ratio of stress hyperglycemia in group 3 compared with group 1 after adjustment for age and sex as predictor of mortality was 3.3 [Cl 0.99-10.98, P=0.032, like wise, the odds ratio in group 2 compared with group 1 after adjustment was 2.4 [Cl: 0.75- 8.07, P=0.065].The history of DM, high serum level of LDL and the level of HBA1 c and Anterior AMI were significant predictors of adverse outcome while other risk factors such as BMI, history of hypertension and smoking were of no significance. These data indicate that hyperglycemia of more than 15 mmol/L on admission without history of DM is powerful predictor of adverse clinical outcome in the setting of acute myocardial infarction. Other useful predictors are history of DM, and high serum level of glycosylated hemoglobin, LDL and the site of anterior MI on ECG. The BMI, history of hypertension and smoking are not useful predictors of adverse mortality

[Gender differences in symptoms of schizophrenia]

To determine gender differences in the symptoms and age of onset of schizophrenia in Bahraini patients. 112 Bahraini patients with schizophrenia who were initially involved in a genetic study were selected. The OPCRIT 3.31 checklist was applied as a diagnostic tool. OPCRIT items were analyzed for differences between males and females. No differences were found between males and females in the studied symptoms of schizophrenia and age of onset as "the earliest age at which medical advice was sought for psychiatric reasons or at which symptoms began to cause subjective distress or impair functioning". This finding was found in both the familial and sporadic groups of schizophrenia. Furthermore, OPCRIT was found to be an equally reliable tool in diagnosing schizophrenia in males and females. The above findings were compared and contrasted to the findings of other studies. While there is agreement regarding the lack of gender difference in the prevalence of the studied symptoms of schizophrenia, there is no such consensus regarding the gender difference in the age of onset of schizophrenia. Caution should be taken with studies that make conclusions concerning this issue until a precise operational definition for the onset of the illness is derived