Miracle-dz/UniFAR-FTUs huggingface dataset:
Prenatal diagnosis of β‐thalassemia in Southern Punjab, Pakistan

Pakistan has a large population of more than 150 million people with an overall carrier frequency of approximately 5.6% for β‐thalassemia. Punjab is the largest province of the country having more than 50% of the population. The state of β‐thalassemia is alarming as consanguinity is very high (>81%) and the literacy rate is low in South Punjab. A thalassemia prevention program is the need of the hour in this part of Pakistan. In this study, we initiated awareness, screening, and characterization of the mutations causing β‐thalassemia as well as a genetic counseling program mainly in the districts of Faisalabad and D.G. Khan to establish prenatal diagnosis, a facility previously unavailable in this region for disease prevention. A total of 248 unrelated transfusion‐dependent children and the available members of their families were screened to characterize the mutations and identify the carriers. Genetic counseling was provided to these families and prenatal diagnosis offered. In the samples analyzed, 11 β‐thalassemia mutations and three hemoglobin variants were detected mainly by using the Monoplex and Multiplex ARMS‐PCR. First‐trimester prenatal diagnosis was carried out through chorionic villus sampling (CVS) in seven pregnancies at risk. As a result of our campaign, 145 carrier couples planning to have more children gave their consent to have retrospective prenatal diagnosis in every pregnancy in future. A cooperative trend and a positive attitude toward the prevention of β‐thalassemia were noticed in the families with affected children and in the general population. Copyright © 2006 John Wiley & Sons, Ltd.
Eradication of Helicobacter pylori compared with long-term acid suppression in duodenal ulcer disease. A randomized trial with 2-year follow-up.

Background: Trials evaluating long-term management of duodenal ulcer disease have mainly been focused on recurrence of ulcers, disregarding effects on dyspeptic and reflux symptoms. Profound acid inhibition with a proton pump inhibitor is the gold standard therapy in acid-related diseases. We aimed to compare the symptomatic effects of eradication therapy with those of long-term omeprazole treatment in a design with periods both with and without acid inhibition. Methods: Patients with active duodenal ulcer were randomized either to omeprazole, 20 mg twice daily until healing, followed by omeprazole, 20 mg/day for 1 year, or to eradication therapy (metronidazole, amoxicillin, and omeprazole for 2 weeks) followed by placebo for 1 year. All patients were followed up passively for an additional year. Clinical controls were performed every 2 months the 1st year (maintenance phase) and every 6 months during the passive follow-up phase. The study was multicentric and double-blind. The primary end-point was disco.
Both gender and concurrent chronic lymphocytic thyroiditis may influence the nuclear texture of papillary thyroid carcinomas cells

Abstract A disparity in gender incidence has been reported in both papillary thyroid carcinoma (PTC) and chronic lymphocytic thyroiditis (CLT) diseases frequently associated and whose incidence has been increasing in parallel. We aimed to analyze differences in morphometric variables between male and female PTC patients and their relationship with the presence of concurrent CLT. The nuclear texture features of 100 hematoxylin–eosin stained nuclei from 100 consecutive classic PTC patients enrolled in our service were compared with their clinical and pathological features, including the presence of CLT. All patients were submitted to a standard management protocol and followed-up for 13–248 months (Mo = 117 months). Chromatin in women tended to present a denser and more homogeneous structure, in a less mottled pattern, with higher values of energy (p = 0.008) and diagonal moment (p = 0.032) than men. Concurrent CLT was more prevalent in women (41.42%) than in men (13.33%, p = 0.04) and was associated with higher cluster prominence values (p = 0.027), a parameter that indicates a predominance of high nuclear contrasted heterochromatin. A multivariate logistic regression analysis showed that higher cluster prominence was independently correlated with chromatin in patients who presented CLT but did not demonstrate any association between concurrent CLT and gender. We were unable to demonstrate any association between gender and any characteristic of tumor aggressiveness or patients outcome. Our results suggest that chromatin texture of hematoxylin–eosin stained nuclei in paraffin sections of PTC cells is related to both gender and concurrent CLT.
Low but measurable stimulated serum thyroglobulin levels <2 µg/L frequently predict incomplete response in differentiated thyroid cancer patients

Abstract Introduction: The study was aimed to determine the response and predictive risk factors of differentiated thyroid cancer (DTC) with measurable (0.4–2.0 µg/L) stimulated serum thyroglobulin (sTg) during the 10–24 months after radioiodine remnant ablation (RRA) and their long-term outcomes. Methods: Out of 839 retrospectively reviewed patients, 95 eligible DTC patients were included. Patients were classified as having incomplete response or no evidence of disease (NED). The sTg cut-off values with highest predicted accuracy for incomplete response at 10–24 months were calculated with receiver operator characteristics curve analysis. Results and Conclusion: At 10–24 months after RRA, incomplete response was identified in 54 patients (57%) and 38/54 (70.4%) patients were found with structural evidence of disease. The remaining 16 patients (29.6%) had biochemical evidence of disease without structural evidence of disease. Forty-one patients (43%) were classified as having NED at 10–24 months after RRA and 27 patients (66%) did not receive further radioactive iodine (RAI) therapy and remained disease free at median follow-up of 6.5 years. Fourteen patients received second RAI treatment after 6 months and before the 10–24 months assessment time point. Of these, 2 had persistent tumor 6 years later. The sTg >0.6 µg/L at 6–10 months after RRA had optimal sensitivity (83.3%), specificity (56%) and negative predictive value (72%) of detecting incomplete response at 10–24 months after RRA. A total of 23/43 patients in the American Thyroid Association low-risk category had incomplete response after first RRA and 5/23 (21.7%) had recurrent/persistent disease at long-term follow-up.
Depressive symptoms in patients with subclinical hypothyroidism – the effect of treatment with levothyroxine: a double-blind randomized clinical trial*

Abstract Despite the increasing evidence for relationships between thyroid dysfunction and neuropsychiatric alterations, the effect of treatment of thyroid disease on various clinical psychiatric outcomes is controversial. The purpose of this study was to investigate the effect of levothyroxine treatment on depressive symptoms in subjects with subclinical hypothyroidism. A randomized double-blind placebo-controlled clinical trial was performed. Sixty subjects (51 females and 9 males) with subclinical hypothyroidism were enrolled. Beck Depression Inventory was completed for all participants at the beginning of the study and 12 weeks after enrollment. The intervention and control groups received levothyroxine and placebo, respectively, for 12 weeks. There were no statistical differences in the total depression score and its subscales between the two groups at the beginning of the study. The Beck Depression Inventory score decreased from 16.79 ± 13.25 to 12.37 ± 10.01 (p value = 0.04) in the intervention group. The change in score was not significant for the control group (13.77 ± 11.71 to 11.86 ± 10.71; p value= 0.16). The affective subscale of Beck Depression Inventory did not change after 12 weeks of treatment with levothyroxine, while somatic subscale remarkably improved in the intervention group (p value = 0.02). This study showed the efficacy of treatment of subclinical hypothyroidism in people with levothyroxine in relation to depressive symptoms.
Health hazards and mitigation of chronic poisoning from arsenic in drinking water: Taiwan experiences

Abstract There are two endemic areas of long-term exposure to arsenic from drinking water in Taiwan. Residents in the southwestern and northeastern endemic areas started using high-arsenic artesian well water in the early 1910s and late 1940s, respectively. Public water supply system using surface water was implemented in southwestern and northeastern endemic areas in the 1970s and 1990s, respectively. Systemic health hazards of long-term exposure to arsenic in drinking water have been intensively investigated since the 1960s, especially after 1985 in Taiwan. Several diseases have been well documented to be associated with chronic arsenic poisoning from drinking water showing a dose-response relation. They include characteristic skin lesions like hyperpigmentation or depigmentation, hyperkeratosis in palms and soles, and Bowen disease, peripheral vascular disease (specifically blackfoot disease), ischemic heart disease, cerebral infarction, microvascular diseases, abnormal peripheral microcirculation, carotid atherosclerosis, QT prolongation and increased dispersion in electrocardiography, hypertension, goiter, diabetes mellitus, cataract (specifically posterior subcapsular lens opacity), pterygium, slow neural conduction, retarded neurobehavioral development, erectile dysfunction, and cancers of the skin, lung, urinary bladder, kidney, and liver. The method of choice to mitigate arsenic poisoning through drinking water is to use safe drinking water from uncontaminated sources.
Health status of an elderly population in Sharpeville, South Africa

The objective of this cross-sectional study was a comprehensive nutrition and health assessment to provide a basis for future intervention strategies for an elderly population attending a day-care centre. Socio-demographic, health and 24-hour recall dietary intake questionnaires were administered and anthropometric and biochemical measurements taken. The results indicate that the majority of respondents had an income of between R501 and R1 000 (South African rand) per month and most of them reported an occasional lack of funds to meet basic household needs, confirming the presence of food insecurity. Daily dietary intakes (mean±Standard Deviation [SD]) of the women were 5 395±2 946 kJ energy, 47±27 g protein, 28±21 g fat and 196±123 g carbohydrates compared to 8 641±3 799 kJ, 86±48 g, 49±32 g and 301±139 g of the men, respectively. The majority (83.6%) of the women were overweight (body mass index [BMI] >25) or obese (BMI > 30) whilst 78% had a mid-upper arm circumference (MUAC) of > 21.7 cm. Mean intakes of micronutrients were low in comparison to reference standards and serum zinc levels were suboptimal. Obesity, hypertension and raised total serum cholesterol levels indicated an increased risk for coronary heart disease. It can be concluded that a low income, household food insecurity and risk factors associated with malnutrition and non-communicable diseases were prevalent in this elderly population. Opsomming Die doelwit van hierdie dwarssnitstudie was ‘n omvattende bepaling van voeding- en gesondheidstatus om as basis te dien vir toekomstige intervensie-strategiee vir ’n groep bejaardes wat ’n dagsentrum besoek. Sosiodemografiese, gesondheid- en 24-uur herroep-dieetinname vraelyste is voltooi en antropometriese en biochemiese metings is geneem. Die resultate het bevestig dat die meerderheid respondente ‘n maandelikse inkomste van tussen R501 en R1 000 (Suid-Afrikaanse rand) gehad het. Die meeste het ‘n geldtekort vir basiese huishoudelike behoeftes gerapporteer wat dui op huishoudelike voedselin-sekuriteit. Daaglikse dieetinnames (gemiddeld± standaardafwyking [SA]) van die vroue was onderskei- delik 5 395±2 946 kJ energie, 47±27 g proteien, 28±21 g vet en 196±123 g koolhidrate in vergelyking met 8 641±3 799 kJ, 86±48 g, 49±32 g en 301±139 g vir die mans. Die meerderheid (83.6%) van die vroue was oorgewig (liggaamsmassa-indeks [LMI] >25) of vetsugtig (LMI > 30) en 78% het ’n middel-bo-armomtrek (MUAC) van > 21.7 cm gehad. Gemiddelde mikronutrientinnames was laag in vergelyking met die verwysingstandaarde en serumsink was suboptimaal. Vetsug, hipertensie en verhoogde totale serumcholesterolvlakke het op ‘n verhoogde risiko van kardiovaskulere siekte gedui. Die resultate het dus bewys dat lae inkomste, huishoudelike voedselin-sekuriteit en die risikofaktore wat met wanvoeding en leefstylsiektes geassosieer word, teenwoordig was.
Childhood intussusception in ilorin: A revisit

Background : Intussusception is the commonest cause of intestinal obstruction in infants worldwide. Whereas the outcome has tremendously improved in developed countries, the same cannot be said in developing countries, especially Africa. This study aims to review the pattern of presentation and the treatment outcome in patients managed for intussusception at University of Ilorin Teaching Hospital, Ilorin. Patients and Methods : This was a six-year retrospective study of 44 consecutive children aged 15 years old and below, who were managed for intussusception between January 1999 and December 2004, at the University of Ilorin Teaching Hospital, Ilorin. The biodata, clinical presentation, operative findings and outcome were collected from paediatric surgical unit record book, the operating theatre records and case notes. The data were analyzed using Microsoft Excel and SPSSsoftware. Results : There were 44 patients, 23 males and 21females (M:F=1.1:1). Their age ranged from 2.5 months to 9 years, with a median age of 5 months. The peak age group was 3-6months (30, 68.2%). Thirty-seven (84.1%) patients were within one year of age.The duration of symptoms ranged between hours and four weeks (median = 3.4 days). Majority (72.7%) of patients presented after 48 hours of onset of symptoms, while only 11.4% presented within 24 hours. Vomiting occurred in 97.6%, and abdominal mass in 72.1%. Pain, irritability and excessive cry occurred in 81.4%, while blood in stool was present in 88.4%. Diarrhoea, constipation, pyrexia and abdominal distention were other features in less than half of patients. Thirty nine patients (88.6%) had emergency laparotomy, at which 51.3% had manual reduction intussusception, while 48.9% had bowel resection. Ileo-colic intussusception was the most common variety seen. Three of 4 patients with pathologic lead points were above 3 years of age. Eleven patients died, with a post operative mortality of 20.5%. Infants with intussusception presented late to the hospital in our environment with attendant high complication rate and poor outcome. Keywords : intussusception, children, late presentation African Journal of Paediatric Surgery Vol. 2(1) 2005: 4-7
B-cell depletion in rheumatoid arthritis: the prospect of long-term benefit

B-cell depletion based on rituximab has now been proven to be an effective therapy for seropositive rheumatoid arthritis with a good safety profile. The encouraging results from early, open-label trials have been confirmed in three large, controlled trials. A license for use in patients that have failed antitumor necrosis factor-α agents has been obtained in the USA and is imminent in several other countries. Despite this welcome progress, experience suggests that all patients who respond to B-cell depletion eventually show clinical relapse. Possible mechanisms of relapse include incomplete depletion of pathogenic B cell clones, persistence of long-lived plasma cells producing pathogenic autoantibodies, or persistence of other kinds of cells, such as autoreactive T cells carrying ‘disease memory’. A better understanding of why patients relapse may allow us to optimize B-cell depletion protocols based on rituximab and/or other agents and contribute to the development of B-cell-targeted therapies, with the .
A comparison of consistency of detecting BRAF gene mutations in peripheral blood and tumor tissue of nonsmall-cell lung cancer patients.

OBJECTIVE The aim was to detect the consistency of the BRAF gene mutation in peripheral blood and tumor tissue of patients with nonsmall-cell lung cancer and discuss the clinical application value of BRAF gene mutation in peripheral blood. MATERIALS AND METHODS Real-time fluorescent quantitative polymerase chain reaction was used to test the tissues in 257 patients of nonsmall-cell lung cancer (NSCLC) and the peripheral blood samples in 318 patients of NSCLC, of which 185 cases of peripheral blood specimens could match the tissue samples, and detected the BRAF gene mutation in them by comparison of mutations consistency in blood and tissue samples, and analyzed the correlation between BRAF gene mutations and clinical characteristics of patients. RESULTS The BRAF gene mutation rate was 7.23% in peripheral blood of 23 patients with nonsmall-cell lung cancer, and was 5.45% in 14 cancer tissues, the mutation consistency was 80.00% in peripheral blood-tumor tissue matched samples. The consistency was statistically significant (k =0.710, P = 0.000). CONCLUSION The consistency of the BRAF gene mutation in peripheral blood and tissue is high. BRAF gene mutations of peripheral blood could be used for clinical diagnosis and treatment in cases when tissue specimen is hard to get.
N-acetylcysteine as a potentially useful medication to prevent conversion to schizophrenia in at-risk individuals

Abstract Schizophrenia is a chronic and often severe psychotic disorder. Its causes include imbalances in mediators involved in neuroplasticity, apoptosis, cell resilience and dendritic arborization. Among these mediators, oxidative species are particularly relevant for the pathophysiology of the disease, and this is the rationale for experimental use of antioxidant medications, such as N-acetylcysteine (NAC). Onset of schizophrenia is usually preceded by a period of subtle and unspecific symptoms, the prodrome, in which preventive interventions could delay or even stop the progression to full-blown psychosis. In this article, we propose that NAC could be a useful medication to prevent evolution of schizophrenia in individuals at risk for psychosis.
Role of caveolin-1 in the biology of the blood-brain barrier

Abstract Caveolin-1 is the principal marker of caveolae in endothelial cells. It plays an important role in physiological and pathological conditions of the blood-brain barrier and serves as a mediator in drug delivery through the blood-brain barrier. Caveolin-1 is related to the diminished expression of tight junction-associated proteins and metabolic pinocytosis vesicles when the blood-brain barrier is destroyed by outside invaders or malignant stimulus. The permeability of the blood-brain barrier, regulated by types of drugs or physical irradiation, is connected with drug transportation with the participation of caveolin-1. Caveolin-1, which serves as a platform or medium for signal transduction, cooperates with several signal molecules by forming a complex. Silencing of caveolin-1 and disruption of caveolae can attenuate or remove pathological damage and even engender the opposite effects in the blood-brain barrier. This review considers the role of caveolin-1 in the blood-brain barrier that may have profound implications for central nervous system disease and drug delivery through the blood-brain barrier.
The journey through the world of adolescent sleep

Abstract Sleep-wake patterns and the electroencephalogram (EEG) during sleep undergo fundamental changes during adolescence. Scientific evidence indicates that these changes represent components of an extensive maturational brain remodeling process. Sleep during periods of brain maturation appears to be particularly important for health and behavior. Adolescents’ sleep problems affect their cognitive and psychobehavioral functioning, making insufficient sleep during this developmental stage a significant international health concern. In this review, we summarize some key data concerning developmental changes in sleep behavior and regulation, and the association between sleep EEG changes and brain maturation. This review extends our understanding of adolescent sleep and highlights its significance for healthy development. We discuss the possibility to follow brain maturation and to detect errors in this maturational process by monitoring the developmental sleep EEG changes.
Intervenção nutricional e prevenção primária do diabetes mellitus tipo 2: uma revisão sistemática

Type 2 diabetes mellitus is one of the most important public health problems in the world. Its increasing prevalence in several countries and the difficult metabolic control of individuals with the disease justify studying strategies for primary prevention. Recent randomized clinical trials suggest that nutritional intervention may have an important impact on risk reduction for type 2 diabetes mellitus among individuals at high risk. The present systematic review describes the effect of lifestyle intervention trials on primary prevention of type 2 diabetes mellitus.
Non-dipping pattern in untreated hypertensive patients is related to increased pulse wave velocity independent of raised nocturnal blood pressure

Abstract Background. Non-dipper pattern, characterized by diminished nocturnal decline in blood pressure (BP), is associated with an increase in cardiovascular events. Carotid–femoral pulse wave velocity (CF-PWV) has been accepted as the gold standard measurement of arterial stiffness. CF-PWV is a well-recognized predictor of an adverse cardiovascular outcome with higher predictive value than classical cardiovascular risk factors. In this study, we investigated the association between PWV as the surrogate of arterial stiffness and non-dipper pattern in untreated hypertensive patients. Methods. The present study was cross-sectional and observational. Hypertensive patients were diagnosed according to ambulatory BP measurements (mean BP $ 130/80 mmHg). Eighty-four hypertensive patients, consulted for initial evaluation of hypertension, were enrolled. CF-PWV as the indicator of arterial stiffness was measured by a validated tonometry system (SphygmoCor). Patients with the history of any cardiovascular disease were excluded from the study. Results. Fifty-six patients had non-dipper pattern and 28 patients had dipper pattern in the study. Baseline characteristics were not significantly different between the two groups, except the CF-PWV (non-dipper vs dipper; 8.91 ± 2.53 vs 7.66 ± 1.08 m/s, p = 0.002), female gender (55% vs 32%, p = 0.045) and nocturnal BP measurements (for mean BP; 106 ± 11 vs 92 ± 8 mmHg, p < 0.001). Multiple logistic regression analysis including age, gender, BP and PWV measurements, revealed female gender (odds ratio, OR = 5.112, 95% confidence interval, CI 1.282–20.4, p = 0.021), nocturnal mean BP (OR = 1.243, 95% CI 1.107–1.396, p < 0.001) and CF-PWV (OR = 1.992, 95% CI 1.240–3.198, p = 0.004) as the independent predictors of non-dipper hypertensive pattern. Conclusion. Our results suggest that diminished nocturnal decline in BP is independently associated with PWV and nocturnal BP rather than daytime BP. Non-dipper pattern, mainly related to increased PWV and impaired modulation of vascular smooth muscle tone during the night, may justify an increased cardiovascular risk in these patients.
A simple and safe technique for reconstruction of the acromioclavicular joint

Surgical reconstruction of the dislocated acromioclavicular joint often requires exposure and instrumentation of the coracoid. This carries risks to the surrounding neurovascular structures. We present a safe and simple technique of primary fixation of the acromioclavicular joint, relying on mechanical principles and biological repair, without the need for metalwork. By avoiding the coracoid we hope this approach will appeal to the general orthopedic surgeon. We have found that this technique is suited to both acute and chronic acromioclavicular joint dislocation.