Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt

Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH). The disease may present clinically with seizures, albinism (excessively fair hair and skin), and a ‘‘musty odor’’ to the baby’s sweat and urine. In the untreated classic case, mental retardation is severe, precluding speech and toilet training. Seizures are common in the more severely retarded, usually start before 18 months of age. This study aimed to identify clinical profile and impacts of newly diagnosed (untreated) PKU on children. Children presented to the Pediatric Department, or Pediatric Neurology Clinic, Sohag University Hospital in whom the diagnosis of Pheylketonuria was established based on measuring phenylalanine level in blood samples were eligible for this study. All studied patients were subjected to thorough history, full  examination, and developmental assessment. Electroencephalography (EEG), computed tomography of the brain (CT), phoniatric and audiologic evaluations were also done. During the period of the study we diagnosed 24 cases with phenylketonuria, the main clinical presentations were global developmental delay, hyperactive symptoms, seizures, and autistic features. CT of the brain showed that 58.3% of cases had atrophic changes. EEG showed that 58.3% of cases had abnormal findings as generalized epileptic discharges, focal epileptic discharges, and  hypsarrhythmia. We concluded that untreated phenylketonuria still represents a significant burden on children development and mental function in Upper Egypt. So we recommend establishment of national screening programs and pushing it forward as well as immediate development of specific metabolic centers in various universities and research institutes

In Situ Surgery: Is It Safe ? (Experience with 60 cases)

Background/Purpose: Neonatal surgical unit (NSU) is the area of a hospital where sick babies having surgical problem go once they are born. Performing in-situ surgery (ISS) in the NSU is relatively a new concept that is gaining popularity in the last decade. Critically ill neonates who are too ill to transfer to the operating room can undergo safe surgery in the NSU environment of a fully-equipped pediatric hospital. Transfer of the critically ill neonates is time consuming, utilizing manpower and requiring suitable portable ventilators and extensive monitoring equipments. Materials & Methods: This is a prospective study conducted on 60 neonates admitted in the surgical neonatal unit of the Cairo University pediatric hospital (Abou-Elrish) and where subjected to surgical procedures in the unit itself. The patients were categorized into 3 groups: The First group was the group at the beginning of the study for which minor procedures were selected. The second group was those neonates that were operated upon on emergency base for which transfer could be hazardous. The last group included those patients on high settings of ventilation and critically ill neonates with extensive monitoring. Results: There was no mortality in the study related to the procedures itself. Group I patients: the time of the surgical procedures was longer than that in the OR and no increase in the infection rate was noticed. Group II in which emergency procedures were carried on showed also increase in operating time but better perioperative circumstances regarding secondary insult to viable structures & less infection rate. Group III: no significant change in outcome in comparison to cases transferred to OR except that the perioperative circumstances were better for the surgeon, anesthesiiologist & nursing teams. Conclusion: NSU is a safe place for performing in-situ surgery (ISS) without increased risk of infection. Successful operative intervention within NSU requires good planning and cooperation between anesthesiologist, surgeons, neonatologist and nursing staff. Maximum benefit is observed in neonates who have definite risk attached to transfer to operating room. Index Word: In-Situ Surgery (ISS) – Neonatal Surgical Unit (NSU)

Study of urinary leukotriene E4 in atopic dermatitis: relation to disease severity

Background: Atopic dermatitis (AD) is a chronic relapsing inflammatory skin disease prevalent in patients with a personal or family history of atopy. Cysteinyl leukotrienes (LTs) are inflammatory mediators which play a role in the pathogenesis of atopic diseases. Urinary leukotriene E4 (LTE4) has been used as an index of the whole body cysteinyl LTs production. Objective: This study was meant to evaluate the importance of LTs in atopic dermatitis (AD) and to study the correlation of urinary LTE4 with disease severity and some commonly altered parameters in AD. Methods: The study included 30 children and adolescents diagnosed to have atopic dermatitis. Ten age and sex matched healthy children and adolescents were enrolled for comparison. They were subjected to clinical evaluation and measurement of urinary LTE4, absolute eosinophilic count, serum IgE and IL-4 and IL-5 in peripheral blood mononuclear cell culture (PBMC) supernatant. The patients were categorized into mild (n=5), moderate (n=16) and severe (n=9) AD subgroups. Results: The study revealed a significant increase in absolute eosinophilic count, urinary LTE4, serum IgE and IL-4 and IL-5 in PBMC culture supernatant in the patients as compared to controls. Moreover, urinary LTE4 levels were significantly increased in moderate and severe cases of AD as compared to the control group, whereas mild cases had levels that were comparable to the controls. Urinary LTE4 levels were higher in severe (p < 0.01) and moderate cases (p < 0.05) when compared to mild cases. Significant positive correlations could be elicited between urinary LTE4 and PBMC IL-4, disease severity scale, absolute eosinophilic count and serum total IgE. However, urinary LTE4 could not be correlated statistically with PBMC IL-5. Conclusion: Elevation in urinary LTE4 excretion in AD patients was demonstrated reflecting increased production of cysteinyl LTs. Urinary LTE4 was correlated to clinical and laboratory markers of severity suggesting that it could be an easy, non invasive and objective prognostic test in AD. Trials of 5-lipoxygenase inhibitors and LT receptor antagonists as additional lines of therapy in AD could thus be suggested.Keywords: atopic dermatitis, urinary LTE4, IgE, IL-4, IL-5, eosinophilic countEgypt J Pediatr Allergy Immunol 2003; 1(2): 134-

Development and validation of stability indicating method for determination of sertraline following ICH guidlines and its determination in pharmaceuticals and biological fluids

<p>Abstract</p> <p>Background</p> <p>Sertraline is a well known antidepressant drug which belongs to a class called selective serotonin reuptake inhibitor. Most published methods do not enable studying the stability of this drug in different stress conditions.</p> <p>Results</p> <p>Two new methods were developed for the determination of sertraline (SER). Both methods are based on coupling with 4-chloro-7-nitrobenzo-2-oxa-1,3-diazole (NBD-Cl) in borate buffer of pH 7.8 and measuring the reaction product spectrophotometrically at 395 nm (Method I) or spectrofluorimetrically at 530 nm upon excitation at 480 nm (Method II). The response-concentration plots were rectilinear over the range 2-24 μg/mL and 0.25-5 μg/mL for methods I and II respectively with LOD of 0.18 μg/mL and 0.07 μg/mL, and LOQ of 0.56 μg/mL and 0.21 μg/mL for methods I and II, respectively.</p> <p>Conclusion</p> <p>Both methods were applied to the analysis of commercial tablets and the results were in good agreement with those obtained using a reference method. The fluorimetric method was further applied to the in vivo determination of SER in human plasma. A proposal of the reaction pathway was presented. The spectrophotometric method was extended to stability study of SER. The drug was exposed to alkaline, acidic, oxidative and photolytic degradation according to ICH guidelines. Moreover, the method was utilized to investigate the kinetics of oxidative degradation of the drug. The apparent first order rate constant and t_1/2of the degradation reaction were determined.</p

Electrocautery causes more ischemic peritoneal tissue damage than ultrasonic dissection

Contains fulltext : 96869.pdf (publisher's version ) (Open Access)BACKGROUND: Minimizing peritoneal tissue injury during abdominal surgery has the benefit of reducing postoperative inflammatory response, pain, and adhesion formation. Ultrasonic dissection seems to reduce tissue damage. This study aimed to compare electrocautery and ultrasonic dissection in terms of peritoneal tissue ischemia measured by microdialysis. METHODS: In this study, 18 Wistar rats underwent a median laparotomy and had a peritoneal microdialysis catheter implanted in the left lateral sidewall. The animals were randomly assigned to receive two standard peritoneal incisions parallel to the catheter by either ultrasonic dissection or electrocautery. After the operation, samples of microdialysis dialysate were taken every 2 h until 72 h postoperatively for measurements of pyruvate, lactate, glucose, and glycerol, and ratios were calculated. RESULTS: The mean lactate-pyruvate ratio (LPR), lactate-glucose ratio (LGR), and glycerol concentration were significantly higher in the electrocautery group than in the ultrasonic dissection group until respectively 34, 48, and 48 h after surgery. The mean areas under the curve (AUC) of LPR, LGR, and glycerol concentration also were higher in the electrocautery group than in the ultrasonic dissection group (4,387 vs. 1,639, P=0.011; 59 vs. 21, P=0.008; 7,438 vs. 4,169, P=0.008, respectively). CONCLUSION: Electrosurgery causes more ischemic peritoneal tissue damage than ultrasonic dissection.01 juni 201

The role of peptides in bone healing and regeneration: A systematic review

Background: Bone tissue engineering and the research surrounding peptides has expanded significantly over the last few decades. Several peptides have been shown to support and stimulate the bone healing response and have been proposed as therapeutic vehicles for clinical use. The aim of this comprehensive review is to present the clinical and experimental studies analysing the potential role of peptides for bone healing and bone regeneration. Methods: A systematic review according to PRISMA guidelines was conducted. Articles presenting peptides capable of exerting an upregulatory effect on osteoprogenitor cells and bone healing were included in the study. Results: Based on the available literature, a significant amount of experimental in vitro and in vivo evidence exists. Several peptides were found to upregulate the bone healing response in experimental models and could act as potential candidates for future clinical applications. However, from the available peptides that reached the level of clinical trials, the presented results are limited. Conclusion: Further research is desirable to shed more light into the processes governing the osteoprogenitor cellular responses. With further advances in the field of biomimetic materials and scaffolds, new treatment modalities for bone repair will emerge

Search for Ultra-high-energy Photons from Gravitational Wave Sources with the Pierre Auger Observatory

A search for time-directional coincidences of ultra-high-energy (UHE) photons above 10 EeV with gravitational wave (GW) events from the LIGO/Virgo runs O1 to O3 is conducted with the Pierre Auger Observatory. Due to the distinctive properties of photon interactions and to the background expected from hadronic showers, a subset of the most interesting GW events is selected based on their localization quality and distance. Time periods of 1000 s around and 1 day after the GW events are analyzed. No coincidences are observed. Upper limits on the UHE photon fluence from a GW event are derived that are typically at &amp; SIM;7 MeV cm(-2) (time period 1000 s) and &amp; SIM;35 MeV cm(-2) (time period 1 day). Due to the proximity of the binary neutron star merger GW170817, the energy of the source transferred into UHE photons above 40 EeV is constrained to be less than 20% of its total GW energy. These are the first limits on UHE photons from GW sources

Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

Background: Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. // Methods: We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung's disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. // Findings: We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung's disease) from 264 hospitals (89 in high-income countries, 166 in middle-income countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in low-income countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. // Interpretation: Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between low-income, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030