Background: Phenylketonuria (PKU) is one of the most common inborn errors of amino acids metabolism. It is an autosomal recessive disease that is caused by mutations in phenylalanine hydroxylase (PAH) gene. In the North Africa and Eastern Mediterranean region, E280K missense mutation and c.1055del.G frameshift mutation in PAH gene are one of the most common pathogenic mutations seen in PKU patients. Materials and Methods: In this study, we developed molecular protocols for rapid screening of the PKU patients for these two mutations. These protocols are based on hydrolysis probe real-time polymerase chain reaction technique using allele-specific probes labeled with 6-carboxyfluorescein (FAM) for wild-type (WT) and hexachloro-6-carboxyfluorescein (HEX) for mutant genotypes and Black Hole Quencher 1 as a quencher and high-resolution melting analysis using EvaGreen saturating dye. Results: There was complete accordance between the developed protocols in differentiating genotypes and they proved to be rapid, sensitive, and efficient for the detection and differentiation between WT, mutant, and heterozygous genotypes of the E280K and c.1055del.G mutations. Conclusions: These protocols allow easy molecular screening of the mutations studied among the families of affected people, especially for premarital screening.

Background and Aim: Gastrointestinal (GI) symptoms are common in patients with chronic kidney disease (CKD), and upper GI endoscopy is a diagnostic tool for GI manifestations in this group of patients, but it is not always indicated. The aim of this study was to investigate the necessity of upper GI endoscopy in CKD and end-stage renal disease (ESRD) on regular hemodialysis patients presented to emergency department (ED) with upper GI symptoms. Materials and Methods: Totally 90 CKD patients presented to ED with acute upper GI symptoms to at Tripoli Central Hospital were enrolled in this study. They were 43 females (87.8%) and 47 males (52.2%), age mean (48.9 ± 0.13). They were divided into three groups. Group A: Patients had upper GI endoscopy at presentation and after 3 days. Group B: Patients refused endoscopy at presentation, but they agreed to do it after 3 days of admission. Group C: Patients refused endoscopy at presentation and after 3 days. At ED, patients had clinical assessment, laboratory tests, and abdominal ultrasound before endoscopy. Results: Hematemesis and vomiting were the most common symptoms. Endoscopy findings at presentation in Group A were erosive gastritis in 19 patients (60.3%), erosive esophagitis in 3 patients (10%), superficial esophagitis in 7 patients (23.3%), and duodenal ulcer in 1 patient (3.3%). Repeated endoscopy after 3 days of admission revealed normal mucosal findings in 24 patients (80%) and remarkable improvement of mucosa in the rest of patients. Group B patients (30 patients) had 3 days of proton pump inhibitor therapy at medical ward and/or medical intensive care unit. Endoscopy findings after 3 days of admission revealed normal results in 29 patients (96.7%) and superficial gastritis in 1 patient (3.3%). Conclusion: Urgent endoscopy is not always needed in CKD and ESRD on hemodialysis patients with acute upper GI symptoms who presented to ED. Most of these symptoms can be managed medically, and urgent endoscopy should be deserved to patients with severe GI complications.

Background and Aim: Diagnosis of intestinal parasites is confirmed by the recovery of protozoan trophozoites and cysts, helminthes eggs, and larvae in stool samples in the clinical parasitological laboratory. In this study, we look at the prevalence of intestinal parasitic infections (IPIs) in outpatient department and hospitalized patients from different age groups in Tripoli Central Hospital obtained from 2007 to 2009. Materials and Methods: We have used the traditional microscopic technique to diagnose IPIs in all received stool samples during the study period. Results: In total, 18,000 stool samples were examined and it was found that 15.7% of them had at least one parasite. The overall prevalence of intestinal protozoan parasites was as follows: Entamoeba histolytica/Entamoeba dispar 5.1%, Entamoeba coli 10%, Giardia lamblia 8.1%, and Cryptosporidium parvum 1%, while the prevalence of intestinal helminthic parasites in this study was as follows: Enterobius vermicularis 5%, Ascaris lumbricoides 0.5%, and Strongyloides stercoralis 0.01%. Other species of intestinal helminthes are not widely prevalent in Libya. We have found a high prevalence of intestinal parasites, especially the intestinal protozoan parasites. The nonpathogenic protozoan, E. coli, had the highest prevalence rate (10.0%). Conclusion: We conducted the stool sample testing by routine ova and parasite methods, and a concentration technique increases the validity of the estimates.

Background/Objectives: Since no previous reported studies on superficial fungal infection (SFI) among patient with an immune bullous dermatosis exist in Libya, this study aimed to determine clinical and mycological aspects of SFI among those patients. Patients and Methods: This study was carried out in a Bullous clinic at Tripoli Central Hospital from May 2010 to October 2010. Patients were examined clinically for evidence of SFI, and scrapings were obtained from suspicious lesions for mycological investigation. Results: Clinical diagnosis of SFI was made in 31/79 (39.2%) female patient cases with immune bullous diseases. Their age ranged from 28 to 80 years (40 ± 13.3 years; mean ± standard deviation) and the main age group affected was 31–40 years (51.6%). A total of 20 (64.5%) of patients had pemphigus foliaceus, 4 (12.90%) pemphigus vulgaris, 3 (9.68%) herpetiform pemphigus, 2 (6.45%) bullous pemphigoid, 1 (3.2%) pemphigus vegetans, and 1 (3.23%) had IgA pemphigus. The majority (87.1%) were living in rural area, 90% of them were homemakers, and 19.4% had a diabetes mellitus. Fingernail involvement was seen in 38.9%, and toenail and tinea pedis were seen in 25% of cases equally. Distal subungual onychomycosis was the predominant clinical entity. Direct microscopic examination was positive in 51.4% and positive culture was obtained in 54.1%. Candida species were the main isolated organism from fingernails and dermatophytes from toenails. Conclusion: This study revealed that SFI was more frequent among female patients with pemphigus foliaceus and Candida species was the main isolated organism from the fingernails.

We report a case of acute pneumococcal meningitis complicated by rhabdomyolysis and acute renal failure in a 46-year-old Indian man who was brought to the emergency department in an unconscious state after a witnessed generalized tonic–clonic seizure that resolved spontaneously. Lumbar puncture was performed, and cerebrospinal fluid (CSF) analysis revealed white blood cell count of 1500 cells/mm³ (98% neutrophils); glucose level <0.1 mmol/L; and protein level 5.57 g/L. Blood chemistry showed high serum creatinine and creatine phosphokinase (CPK). The patient was sent to the Intensive Care Unit, where he received intravenous antibiotic with early and aggressive hydration, while CSF culture was pending. Two days later, the CSF culture yielded Streptococcus pneumoniae which was sensitive to ceftriaxone and penicillin G. Therefore, ceftriaxone continued for a total of 14 days. The patient maintained good urine output throughout the illness, and his renal parameters improved without dialysis. Eighteen days after admission, he was discharged without fever and with a normal renal function and normal creatine kinase level.