Aim of work: The aim of this study is to explore epidemiological and clinical situation of phenylketonuria among children in Fayoum governorate and to assess the current state of PKU screening and management. Patients and Methods: This study was conducted with 2 approaches; a retrospective approach related to the recorded data of phenylketonuria cases on Fayoum governorate and a cross sectional approach to complete history taking and examination of the cases.Results: From 9/2015 to 9/2017, 229547 newborns in Fayoum were screened for PKU with screening coverage rate of 98.8%. Out of 61 mothers of the 71 PKU cases, 49/61 (80.3%) reported consanguineous marriage,19/22 (86.5 %) of them showed appearance of PKU (fair complection of skin, hair and iris), As regards neurological examination, 13/65 (20.0 %) had delayed speech.Conclusion and recommendations: Incidence of PKU among screened neonate in Fayoum governorate was high whichimplicates the importance of NBS program for early detection of PKU cases before appearance of manifestations.Consanguinous marriage was found in most cases of PKU. Health education specially for those living in rural area as regard the role of consanguineous marriage and family history as a risk factor of PKU is an important issue.
Background: The facial nerve is one of the most important structures encountered during surgical removal ofparotid gland tumours especially since these closely approximate the nerve. The importance of the facial nerve andcontroversies about how to identify it are exemplified by the multiple anatomical landmarks described to identify the facial nerve during parotidectomy. The trident landmark is one of these anatomical landmarks (The facial nerve forms the center point between the base of the styloid process and the origin of the posterior belly of the digastric muscle). Aim of the study: To evaluate the accuracy of the trident landmark as a proposed anatomical landmark for easy,accurate and safe identification of the facial nerve trunk during superficial parotidectomy. Patients and methods: This clinical prospective study was conducted between January 2018 and September 2018 at Al Fayoum University Hospital (FUH), Fayoum University, Egypt and Kafr El-Sheikh university hospital (KUH), Kafr El-Sheikh University, Egypt. It included 25 patients; 14 (56%) males and 11(44%) females with a mean age of 42.68 ±17.53 years. All patients had benign tumors of the superficial lobe of the parotid gland and were subjected to superficial parotidectomy. Outcome was evaluated regarding clinical success of facial nerve identification by trident landmark and early post operative complications. Results: All 25 patients were subjected to superficial parotidectomy. Facial nerve trunk was successfully identified in all the patients with no intra-operative complications. Operative time ranged from 70 to 135 minutes with a mean time 106.80 ±16.13 minutes. Facial nerve deficit of the marginal mandibular nerve (MMN) was noted in 1 patient (4 %), Surgical site infection (SSI) was noticed in 1 patient (4%), Skin flap necrosis in the retroauricular area was also viewed in 1 patient (4%) and no hematoma was noticed in all the patients. Conclusion: Ttident landmark described here facilitates the identification of facial nerve trunk during superficial parotidectomy with relative ease, safety and accuracy. This can be a very useful method to minimizethe facial nerve injury during parotid surgery.
Background: Down syndrome is the most common identifiable genetic cause of intellectual disability and birth defects.Although intellectual disability and hypotonia are present in virtually all individuals with DS, the expression of otherDS-associated congenital and acquired medical complications is variable. Aim of the work: The aim of the study is todetermine the neurodevelopmental, behavioral, mentality outcome and associated neurological complications inchildren with Down Syndrome. Methods: Forty children with Down syndrome were enrolled from June 2016 toMarch 2017 in the genetic clinic in Fayoum University Hospital. For all, EEG study was done; evaluation using Portage program, and serum TSH, free T3and free T4 was measured. For selected cases fundus examination, ABR, and MRI was done. Results: There was significant developmental delay in motor abilities, selfhelp, social, cognitive, communication, and language skills in our cases. There was a significant relation between motor development, self-help skills,communication skills, language development and head circumference; however, no significant relation was found between cognitive skills and head circumference. There was a significant relation between delay in cognitive skills and EEG abnormalities. There was no significant relation between cytogenetic type of Down Syndrome, presence or absence of cardiac abnormalities, and portage score. Conclusion: All items of developmental outcome were affected in Down Syndrome. The Portage scores (in motor development, self-help skills, communication skills, language development) were affected by microcephaly and EEG abnormalities were found in cases with cognitive disabilities.