Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare autosomal recessive bleeding disorder. Here we report a case of a girl with novel variant in the gamma-glutamyl carboxylase (GGCX) gene leading to VKCFD. A 3-month-old girl presented to our hospital with a history of bleeding from puncture site. Laboratory evaluation showed markedly prolonged partial thromboplastin time and activated partial thromboplastin time. Activities of vitamin K-dependent factors were all low. Genetic analysis revealed a homozygous currently unreported variant in the GGCX gene further supporting a diagnosis of VKCFD type 1. VKCFD due to GGCX mutation has an overall good prognosis

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Fontan procedure is the preferred palliation for patients with single ventricles. Objectives To evaluate early morbidity and mortality after Fontan operation in 87 consecutive patients, between 2007 and 2017. Methods Early survival, duration of intensive care unit (ICU), and hospital stays were the main outcomes evaluated. Potential influencing factors evaluated included preoperative and intraoperative variables. Results Fontan procedure was performed at a median age of 4.2 years (range, 17 months‐26 years), and a median weight of 15.5 kg (range, 8‐72 kg). Extracardiac Fontan was the procedure of choice. The median cardiopulmonary bypass time was 122  minutes (range, 58‐550 minutes). The majority had a fenestration (75 out of 87). Postoperatively, the median duration of ICU stay and total hospital stay were (4, 1‐76 days) and (16, 1‐85 days), respectively. Fontan failure occurred in one patient (1%). Overall early survival was 94%, resulting in a mortality rate of 6%. Univariate analysis showed that heterotaxy (odds ratio [OR], 2.222; confidence interval [CI], 1.345‐6.250; P = .003) and decreased ventricular function (OR, 2.207; CI, 1.348‐6.061; P = .002) significantly decreased survival. The same analysis failed to identify any statistically significant risk factors for prolonged hospital and ICU stays. Conclusion Our reported mortality and morbidity rates compared favorably with the reported rates. Therefore, Fontan operation can be performed in a tertiary care center in the United Arab Emirates with favorable early postoperative outcomes.

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Background: Male circumcision is a common procedure, generally performed during the newborn period. Bleeding is an uncommon but feared complication of circumcision.Few reports have evaluated circumcision bleeding rates in patients with bleeding disorders. Objectives:To study circumcision bleeding rates in male subjects who were diagnosed later in life with delta-storage pool deficiency (δ-SPD). Methods:We retrospectively reviewed the medical records of male subjects (≤18 years of age) who were circumcised without hemostatic prophylaxis prior to δ-SPD diagnosis from 2000 to 2020. Bleeding rates and severity were the main outcomes evaluated. We collected demographic data, bleeding scores using a validated assessment tool, laboratory data, and platelet electron microscopy results. A descriptive analysis was performed.Results: Twenty-five male subjects were included. The median bleeding score at presentation was 3.5 (range: 2-9). The diagnosis was confirmed using platelet electron microscopy. A value of <2 dense granules/platelet was considered abnormal. Circumcision was performed at a median age of 2 days (range: 1 day to 4 months). None of the subjects had intraoperative or postoperative bleeding. With a bleeding rate of zero, we suggest that newborn males with a family history of δ-SPD may be safely circumcised without hemostatic prophylaxis.

Introduction male circumcision is a common procedure, generally performed during the newborn period. Few reports have described circumcision in patients with bleeding disorders. Aim to determine bleeding rate after circumcision in neonatal male subjects who were diagnosed later in life with delta-storage pool disease (SPD). Methods we retrospectively reviewed the medical records of male subjects (<18 years of age) who were diagnosed with SPD later in life and were circumcised at birth without hemostatic prophylaxis due to lack of family history at that time from 2000-2020. Intraoperative/postoperative bleeding and bleeding severity were the main outcomes evaluated. Results 153 male subjects were included. Circumcision was performed at a median age of 2 days (range, 1 day-4 months). The main indication for circumcision was parental request. Median severity of granule deficiency was 2.76 dense granules/platelet (range, 1.12-3.82 DG/Plt). None of the subjects had intraoperative bleeding. Three subjects (2%) had postoperative bleeding and only one (0.65%) required ER intervention to stop bleeding. Conclusion the overall incidence of bleeding in our subjects with SPD who were undiagnosed and untreated at circumcision, is comparable to that reported for patients without a bleeding disorder.