Clinicians should suspect ASD deficiency in any newborn presented with severe congenital microcephaly followed by severe epileptic encephalopathy and global developmental delay. CSF asparagine level is low in this disorder while plasma may be low.

BackgroundDehydration results from a decrease in total body water content either due to less intake or more fluid loss. Common symptoms of dehydration are dry mouth/tongue, thirst, headache, and lethargy. The aim of this study was to assess knowledge of dehydration definition, symptoms, causes, prevention, water intake recommendations and water intake practices among people living in Riyadh, Saudi Arabia.MethodsA cross-sectional study using self-reported questionnaire was employed. Participants were invited during their visit to shopping malls. The shopping malls were selected based on geographical location covering east, west, north and southern part of the city. Self-filled questionnaires were distributed to 393 participants, using systematic sampling technique. Variables recorded included demographics, past medical history, knowledge of dehydration definition, symptoms, causes, prevention and daily water intake practices. Descriptive statistics were summarised as mean, standard deviation and proportions. Negative binomial model was used to identify the predictors of water intake. Analyses were performed using SAS version 9.4 (SAS Institute, Cary, NC, USA).ResultsOut of 393 participants, 273(70%) were Saudi, 209(53%) were female, average age was 32.32 ± 8.78 years. Majority 366(93%) had good knowledge of dehydration definition, 332(84%) for dehydration prevention, and 293(74%) of water intake recommendation. Top three recognized dehydration symptoms were: dry lips (87%), thirst (84%), dry tongue (76%) and recognized dehydration causes were: diarrhoea (81%), sweating (68%) and vomiting (62%). The less recognized symptoms were fatigue 176(44.78%), lack of focus 171(43.5%), headache/dizziness 160(40.71%), light headedness 117(29.7%), muscle weakness 98(24.94%), rapid breathing 90(22.9%), and muscle cramps 64(16.28%).The participants had reported an average of 5.39 ± 3.32 water glasses intake per day. The total volume of water intake was significantly different between males n = 184 (3.935 ± 2.10 l) and females n = 209 (3.461 ± 2.59 l) (p = 0.046). The participants’ weight status, intake of juice or tea were the significant predictors of more water intake.ConclusionThe participants displayed good knowledge of dehydration definition, prevention, and water intake recommendation. The participants also displayed good knowledge of the common symptoms, however knowledge was lacking for uncommon symptoms. Moreover, participants had reported adequate water intake, meeting the daily water intake recommendation of ≥3.7 l for men and ≥ 2.7 l for women.Electronic supplementary materialThe online version of this article (10.1186/s12889-018-6252-5) contains supplementary material, which is available to authorized users.

Introduction The most catastrophic complication of penile implant surgery results in either total/partial loss of the penis to such an extent that salvage penile reconstruction or phalloplasty is required. Penile gangrene (or necrosis) is rare and is associated with several patient factors (smoking, diabetes) and surgical factors (sliding technique, revision or a subcoronal incision). Irreversible ischemia with tissue loss will ensue if the prosthesis is not removed immediately. Nevertheless, subsequent corporal fibrosis and penile length loss may preclude an adequate functional penile length. In this situation, total penile reconstruction would be the only option to restore the ability for sexual intercourse and to void while standing. Objective The aim of this series is to assess the risk factors that predispose a select group of patients that require phalloplasty following penile gangrene and their surgical and functional outcomes following reconstruction. Methods All patients following phalloplasty for penile necrosis were identified from a comprehensive prospective database. Potential risk factors for penile necrosis were identified and the type and outcomes of reconstruction summarized. Functional outcomes were assessed by non-validated questionnaire. Results Thirteen patients with a median age of 57 years (range 27-68 years) required phalloplasty following penile necrosis with no incidence of flap loss. Reasons for erectile dysfunction were diabetes (37.5%), Peyronie’s disease (31%) and pelvic trauma (25%). The most common identifiable risk factors was diabetes (60%), followed by smoking (53%), adjunctive procedures like sliding technique or grafting (40%), revision surgery (27%) and infection with delayed explantation (27%). All patients had more than one risk factor for penile necrosis. Penile reconstruction was achieved with the radial artery forearm free flap (62%) and the anterolateral thigh flap (38%). All flaps were designed with an integrated urethra requiring anastomotic urethroplasty. Urethral complications occurred in 46.2% of men (fistulae and strictures) requiring surgical repair (Clavien 3b) while 2 had partial skin graft loss from the donor arm that improved with dressings and antibiotics (Clavien 2). Following phalloplasty, all responders had sensation (46% could orgasm with the neophallus) and 86% were able to void while standing. Most men were satisfied with the esthetic outcome (92%). The questionnaire response rate was 67%. Conclusions Penile necrosis following penile prosthesis insertion is rare and occurs in the presence of risk factors, particularly diabetes and smoking. Penile prosthesis surgery should be considered carefully in this cohort of patients especially for revision surgery or where adjunctive procedures are planned. Infection requires immediate explant of the device. Phalloplasty has good surgical and functional outcomes should reconstruction be required although there is a significant risk of surgical complications. Disclosure No