The Role of Genetic Testing in Pediatric Renal Diseases: Diagnostic, Prognostic, and Social Implications.

Pediatric renal diseases vary widely and are linked to high morbidity and mortality; hence, early diagnosis is vital. Presently, genetic testing is being incorporated into the standard of care for children and their families with kidney disease, primarily as a diagnostic tool. In the present review, we aim to collect all potential evidence from relevant studies that reported the role of genetic testing in pediatric renal disease diagnostic, prognostic, and social implications. We have conducted both electronic and manual searches within PubMed, the Cochrane Library, Web of Science, and Scopus to find relevant studies. Studies from the years 2013-2023 were included. Case reports with limited sample sizes and no descriptive statistics, along with review papers and meta-analyses, were excluded from this review. Quality assessment for all included studies was performed. The pooled diagnostic yields were calculated using the common effect and random effect models utilizing the R program (R Foundation for Statistical Computing, Vienna, Austria). The pooled result for the diagnostic yield as per the common effect model is a pooled proportion of 0.42 (42%) 95% confidence interval (CI): [0.39,0.44], while with the random effects model the pooled proportion is 0.43 (43%) 95% CI: [0.31,0.57]. The diagnostic yield for the included studies ranged from 78.10% to 16.8%. The spectrum of kidney diseases included nephrolithiasis/nephrocalcinosis, glomerular diseases, cystic kidney disease, ciliopathies, tubulopathies, chronic kidney disease, and congenital anomalies of the kidneys and urinary tracts (CAKUT), while hematuria and proteinuria were reported by two studies and autosomal recessive and autosomal dominant idiopathic kidney disease was reported by only one study. Genetic testing validates clinical diagnosis and aids in tailoring management strategies; hence, a more precise treatment plan is developed and unnecessary investigations are avoided, which is crucial in the case of children during routine nephrology clinic visits. Genetic counselling is of the utmost importance, so all ethical and social concerns related to genetic testing are addressed in addition to patient satisfaction.

Risk Factors Linked to Depression After Treatment in Cancer Survivors in Jeddah, Saudi Arabia.

Background While many cancer patients survive long after diagnosis, one is bound to experience long-term and latent side effects as a result of the treatment. This experience results in a poor quality of life, morbidity, and mortality for cancer survivors. Understanding how to manage these side-effects is quite important and a key to cancer survivorship. Objective Given the importance of this area, the main objective of this study seeks to understand the risk factor associated with cancer survivorship. Methods A cross-sectional study was conducted among 154 cancer survivors from King Fahad General and Kind Abdul-Aziz hospitals. Descriptive and inferential statistics were used in analyzing the responses. Descriptive statistics were used in understanding the extent of the risk factors while inferential statistics were used to understand the cross-relationships. Results This study included 154 cancer survivors aged 18 and above at King Fahad Hospital and King Abdul-Aziz Hospital in Jeddah, Makkah Region, KSA. Thirty-one (20.1%) of the sample were males and 123 (79.9%) were females. Of all the survivors who screened, 111 (72.9%) symptoms occur before treatment, 116 (75.3%) within the treatment, and 57 (37.09%) after treatment. The relationship between Socioeconomic Status Cross Symptoms categories demonstrated below includes accommodation type, education level, age, gender, and job. Conclusion The study concludes that post-cancer treatment symptoms are highly affected by other factors such as social-economic status as well as family support. As a result, the study recommends the establishment of educational materials on post-treatment symptoms, care-plans, and support groups for cancer survivors.

Specialty preferences and motivating factors: A national survey on medical students from five uae medical schools.

BACKGROUND: Workforce planning is critical for being able to deliver appropriate health service and thus is relevant to medical education. It is, therefore, important to understand medical students' future specialty choices and the factors that influence them. This study was conducted to identify, explore, and analyze the factors influencing specialty preferences among medical students of the United Arab Emirates (UAE). METHODS: A multiyear, multicenter survey of medical student career choice was conducted with all five UAE medical schools. The questionnaire consisted of five sections. Chi-squared tests, regression analysis, and stepwise logistic regression were performed. RESULTS: The overall response rate was 46% (956/2079). Factors that students reported to be extremely important when considering their future career preferences were intellectual satisfaction (87%), work-life balance (71%), having the required talent (70%), and having a stable and secure future (69%). The majority of students (60%) preferred internal medicine, surgery, emergency medicine, or family Medicine. The most common reason given for choosing a particular specialty was personal interest (21%), followed by flexibility of working hours (17%). DISCUSSION: The data show that a variety of factors inspires medical students in the UAE in their choice of a future medical specialty. These factors can be used by health policymakers, university mentors, and directors of residency training programs to motivate students to choose specialties that are scarce in the UAE and therefore better serve the health-care system and the national community.

Is umbilical cord blood total thyroxin measurement effective in newborn screening for hypothyroidism?

OBJECTIVE: To assess the performance of the use of umbilical cord blood for screening of primary congenital hypothyroidism in the Saudi Aramco Medical Services Organization newborn thyroid screening programme. METHODS: Umbilical cord blood total thyroxin (CB-TT4) was measured. In samples with low T4 concentrations, an additional measurement of cord blood thyroid-stimulating hormone was made. RESULTS: A total of 96,015 newborn infants were screened in the period January 1990-December 2007. Twenty-six cases of primary congenital hypothyroidism, six cases of transient hypothyroidism and 13 cases of central hypothyroidism were detected. This method of screening resulted in 100% sensitivity and 98% specificity (95% CI 84-100, and 95% CI 98-98.2, respectively). However, there was a high mean recall rate of 1.9%. CONCLUSION: The use of CB-TT4 is a valid screening strategy for primary congenital hypothyroidism. It meets the metabolic screening demands of early discharge policy and guarantees screening all newborns delivered in the hospital.

Diabetic nephropathy in children with type 1 diabetes mellitus in Bahrain.

OBJECTIVE: Children and adolescent patients with type 1 diabetes mellitus (T1DM) may have an increased risk of developing diabetic nephropathy (DNP). The incidence of DNP varies with glycemic control, and peaks after 15-20 years of diabetes and decline thereafter. Microalbuminuria is uncommon before puberty, and usually occurs after 5 years of diabetic duration. Once overt DNP is established, a progressive decline in the glomerular filtration rate and elevation in arterial blood pressure occurs, and it is the most important disorder leading to renal failure in adult patients with diabetes in developed countries. The purpose of this study was to screen all the children and adolescent with T1DM of 5 years duration or more for DNP. METHODS: Between April 2000 and February 2001, all patients with T1DM of more than 5 years, who were diagnosed between years 1985 to 1995 and followed by pediatricians at Salmaniya Medical Complex, Kingdom of Bahrain, were screened for DNP. Medical records were reviewed for demographical data, blood for hemoglobin A1c (HbA1c), fasting sugar and renal function test. The presence of DNP, retinopathy and neuropathy and the medications were also reviewed. DNP was diagnosed by urine microscopy, overnight urine collection for albumin to creatinine ratio, or 24-hour urine for protein, and the medications RESULTS: Diabetic nephropathy was diagnosed in 10 patients (31%), 2 with microalbuminuria (incipient nephropathy), and 8 with proteinuria (clinical nephropathy). Diabetic nephropathy was diagnosed at a mean of 10.5 years after the onset of T1DM. The mean age was 18 years for the DNP. Mean HbA1c was 11.8% for DNP and 10.2% for non-nephropathy group. All the patients with DNP were treated with an angiotensin converting enzyme inhibitor, 5 of them had hypertension. None developed renal failure or retinopathy. CONCLUSION: Microalbuminuria is uncommon before 5 years of the onset of T1DM. Screening for microalbuminuria should be performed in adolescent over 12 years of age, with diabetes of more than 5 years duration and persistent hyperglycemia (HbA1c > 11 %).

Epilepsy and driving in Saudi Arabia. A pilot study.

OBJECTIVE: There is paucity of information on the driving pattern of epileptic patients in Saudi Arabia. The purpose of this study was to document the frequency of epileptic patients that drive and the factors associated with this. METHODS: A Hospital-based study with structured interviews of consecutively recruited patients who gave prior consent. Seizure types, extent of control and factors presumed to be associated with driving were documented. RESULTS: One hundred and thirty eight male epileptics (mean age: 32.7 years) were studied. Only 15 patients (11%) were not driving. There was no difference in the mean ages of those who drove and those who did not (t = 0.69, p = 0.49); but the former group had a significantly higher proportion of subjects with uncontrolled seizures (z = 2.52, p<0.01). Overall, 108 subjects (78%) were educated about the risks associated with driving. The major reason for driving was seizure control with no fear of accidents. The other reasons were: lack of money to employ drivers and non availability of other people to drive. On multivariate analysis, seizure control and negative history of attack while driving were the factors significantly associated with driving. CONCLUSION: The study showed a very high frequency of epileptic drivers whose decision to drive appeared to be associated with good seizure control and lack of attacks while driving. Health education about the risk of driving should continue especially for patients with uncontrolled attacks and generalized seizures.

Phenytoin dosage adjustment in Saudi epileptics: utilization of steady-state pharmacokinetic parameters.

We determined the Michaelis-Menten parameters (Vmax and Km) in 271 Saudi epileptic patients having generalized tonic-clonic seizures and who were treated with phenytoin (PHT) using high pressure liquid chromatography (HPLC). The patients comprised 150 (55.4%) males and 121 (44.6%) females, with a mean age of 31.7 years (SD = 18.5). The mean Vmax for subjects less than 16 years of age was 10.35 mg/kg/day (SD = 0.73, range = 3.77-17.01), while for those above 16 years, the mean value was 7.99 mg/kg/day (SD = 0.15, range = 3.68-15.95). The difference was statistically significant (P < 0.001). Vmax was positively correlated with weight (r = 0.953), but negative with age (r = -0.903). Km values ranged from 1.01-20.87 mg/litre. The adult Km mean of 6.52 mg/l (SD = 0.24) was significantly higher than the mean of 4.79 mg/l (SD = 0.40) for pediatric patients (P < 0.01), but Km was correlated neither with age nor with weight. Our results showed no difference between the predicted and observed serum PHT concentrations in both the pediatric and adult patients when the respective age group Km and Vmax values were used to adjust PHT doses. The pediatric cases, however, required 30% more PHT per kilogram of body weight than the adults for the achievement of similar serum concentrations.

Terminal Latency Index: A distinctive diagnostic criterion for carpal tunnel syndrome.

Full text is available as a scanned copy of the original print version.

Migraine and tension type headaches.

Full text is available as a scanned copy of the original print version.

Epilepsy and driving in Saudi Arabia. A pilot study.

Full text is available as a scanned copy of the original print version.

Dementia in Saudi Arabia: experience from a university hospital.

OBJECTIVES: To describe the pattern of presentation, the types of dementia and the associated conditions in Saudi patients. MATERIALS AND METHODS: Hospital-based study using DSM-IV and ICD 10 criteria for consensus diagnosis of cases from clinical information and results of investigations. Dementia subtypes were made according to NINCDS-ADRDA, NINDS-AIREN and ICD 10 criteria while CDR was used for severity grading. RESULTS: A total of 77 demented patients (49 males, 28 females) were studied. The hospital frequency was 19.3/100,000 patients. The mean age at presentation was 74.6 years and age at onset was below 65 years in 17 patients. The types of dementia were: Alzheimer's disease (51.9%), vascular dementia (18.2%), mixed cases (15.6%), dementia with Parkinson's disease (7.8%) and treatable dementia (5.2%). Only 3 patients were in the severe clinical stage and infections were important causes of deterioration. CONCLUSION: The hospital frequency appears to be low probably because of the relatively young population. The pattern of dementia with preponderance of AD is similar to that in western countries and intervention directed at the risk factors for stroke could reduce the burden of vascular dementia.

Epilepsy classification and factors associated with control in Saudi adult patients.

There is insufficient information on the epilepsies in Saudi Arabia. The objectives were to classify the patients according to seizure types and epilepsies as well as to determine the factors associated with control. In a hospital-based study, clinical information, electroencephalographic and neuroimaging findings were utilized to classify the cases into seizure types and epilepsies according to ILAE criteria and to determine the factors statistically associated with control. In the study there were 826 patients (454 males and 372 females; mean age = 28.7 years; >80% below 30 years at onset). The seizure types were: generalized tonic-clonic (43.8%), partial seizure secondarily generalized (41.9%), myoclonic (8.4%), simple partial (1.3%), complex partial (1.3%) and absence (0.4%). About 15% of the classifiable epilepsies were symptomatic. Most symptomatic epilepsies occurred in people over the age of 50 years. One-year remission rate was 80% and the factors associated with control were: compliance, monotherapy, therapeutic drug level and seizure type. The results showed that epilepsy predominantly affected young adults and confirmed the association of partial epilepsy with clinical and CT abnormalities. The 1-year remission rate was comparable with reports from other studies as well as the factors associated with control in our patients.

Centro-temporal benign epilepsy in Saudi children.

A review of 36 interictal EEGs compatible with the diagnosis of benign childhood epilepsy with centro-temporal spikes (BECTS) was made in this study. These children constituted 31% of the children with focal epileptic EEG activity observed in the same period. The dipolic spikes occurred either as a single focus (78%) or as two independent foci with a greater preponderance to the right (22%). The onset of seizures before the age of 5 years (Group I) is 53% and between 6 and 10 years (Group II) is 47%. Clinical evaluation showed that 60% of the patients in Group I and 75% in Group II had lateralized seizures, although all of them were initially diagnosed as nocturnal generalized tonic-clonic seizures. A follow-up study showed 31% complete recovery, 47% seizure-free under medications, 8% occasional seizures, 8% frequent seizures, and the rest 6% had a single seizure without medication. It is therefore concluded that the syndrome is common in Saudi Arabia and is usually unrecognized by the general physicians. The follow-up of our patients so far confirms the excellent prognosis.

Prevalence of primary headache syndrome in adults in the Qassim region of Saudi Arabia.

BACKGROUND AND PURPOSE: Headache occurs worldwide, but documentation on the burden of headache in Saudi communities is quite limited. The aim of this study was to determine the prevalence of primary headache in a rural community in the Qassim region of Saudi Arabia. METHODS: A door-to-door survey of subjects older than 15 years of age was used for completion of a structured questionnaire to determine headache types based on defined criteria. Physical examination was used to exclude secondary causes. RESULTS: Of 5891 inhabitants, 473 suffered from headaches. The crude lifetime prevalence rate was 8% (95% Cl, 7.3% to 8.7%) and with age adjustment was 9.3% (8.6% to 10%). Headache sufferers were predominantly women. The age-specific rate increased progressively, peaking in the sixth decade. Tension-type headache diagnosed in 185 subjects predominated (3.1%), while the prevalence of migraine was 2.6%. CONCLUSION: The findings agree with the reported prevalence of 10% to 12% in other communities in the Kingdom of Saudi Arabia, but lower than the rates in Western countries. The lower rates are probably related to sociocultural factors.

Sudden 'stroke-like' onset of hemiparesis due to herpetic encephalitis.

BACKGROUND/OBJECTIVE: Herpes simplex encephalitis usually has a progressive cause. Sudden neurological deficits are unusual. METHOD: Case study. RESULTS: A 17-year-old girl presented with an acute onset focal neurological deficit followed one week later by the more classical feature of altered level of consciousness, fever and focal seizures. The diagnosis of herpetic encephalitis was made by magnetic resonance imaging (MRI) and by the significant increase in cerebrospinal fluid titres of antibodies against herpes simplex type I. CONCLUSION: Herpetic encephalitis should be considered in the differential diagnosis of acute stroke in young patients even in the absence of encephalitic features, if common etiological factors such as embolization and intracerebral bleed are excluded.

Cerebral venous thrombosis in adults. A study of 40 cases from Saudi Arabia.

BACKGROUND AND PURPOSE: We undertook this study to determine the frequency, clinical patterns, and etiologies of cerebral venous thrombosis in a Middle Eastern country. METHODS: Records of all adults patients admitted with an angiographically documented diagnosis of cerebral venous thrombosis from 1985 through 1994 in two major hospitals of Riyadh, Saudi Arabia, were reviewed. RESULTS: Forty patients (20 men, 20 women) aged 16 to 40 years were identified. Hospital frequency was 7 per 100,000 patients, and the relative frequency against arterial strokes was 1:62.5. Nineteen cases (47%) had a clinical picture of pseudotumor cerebri. Behçet's disease was the cause in 10 cases (25%). Other causes included antiphospholipid antibodies in 4, protein S deficiency in 3, intracranial tumors in 3, systemic lupus erythematosus in 3, infections in 3, antithrombin III deficiency in 2, postpartum in 1, and oral contraceptives in 1. CONCLUSIONS: Cerebral venous thrombosis in adults is not uncommon in Saudi Arabia. Behçet's disease is the single most common etiology. Infection is no longer an important cause, whereas "new" coagulation disorders are common. Patients with a pseudotumor cerebri syndrome should undergo angiography or brain MRI before being labeled idiopathic.

Efficacy of antibiotics in neurobrucellosis.

Brucellosis is a systemic infection that rarely involves the nervous system. This paper describes 21 cases of neurobrucellosis affecting different parts of the peripheral and central nervous system. The various presentations closely simulated acute meningoencephalitis, myelitis, cerebral ischaemia, radiculopathy or multisystem degeneration. All patients received adequate combined antimicrobial therapy of trimethroprim-sulfamethoxazole, doxycycline, and/or rifampicin. The improvement was quick and complete in meningoencephalitic patients, while others with structural changes in the nervous system did not recover and ended up with permanent deficits. The combination regimen and duration of therapy are the focus of this study.

Adenosine deaminase concentration in cerebrospinal fluid during brucella meningitis.

Adenosine deaminase (ADA) activity was measured in the CSF of five patients with confirmed brucella meningitis. The mean enzyme value was 20.00 U/l in the presence of high lymphocyte counts in the CSF. We conclude from this preliminary result that the quick and simple estimation of ADA in CSF could be of great value in the diagnosis of brucella meningitis as the enzyme concentration was high in all five patients. This finding is however not specific and similar results have been reported in other meningitides such as tuberculous meningitis.