Deep learning-based identification of esophageal cancer subtypes through analysis of high-resolution histopathology images.

Esophageal cancer (EC) remains a significant health challenge globally, with increasing incidence and high mortality rates. Despite advances in treatment, there remains a need for improved diagnostic methods and understanding of disease progression. This study addresses the significant challenges in the automatic classification of EC, particularly in distinguishing its primary subtypes: adenocarcinoma and squamous cell carcinoma, using histopathology images. Traditional histopathological diagnosis, while being the gold standard, is subject to subjectivity and human error and imposes a substantial burden on pathologists. This study proposes a binary class classification system for detecting EC subtypes in response to these challenges. The system leverages deep learning techniques and tissue-level labels for enhanced accuracy. We utilized 59 high-resolution histopathological images from The Cancer Genome Atlas (TCGA) Esophageal Carcinoma dataset (TCGA-ESCA). These images were preprocessed, segmented into patches, and analyzed using a pre-trained ResNet101 model for feature extraction. For classification, we employed five machine learning classifiers: Support Vector Classifier (SVC), Logistic Regression (LR), Decision Tree (DT), AdaBoost (AD), Random Forest (RF), and a Feed-Forward Neural Network (FFNN). The classifiers were evaluated based on their prediction accuracy on the test dataset, yielding results of 0.88 (SVC and LR), 0.64 (DT and AD), 0.82 (RF), and 0.94 (FFNN). Notably, the FFNN classifier achieved the highest Area Under the Curve (AUC) score of 0.92, indicating its superior performance, followed closely by SVC and LR, with a score of 0.87. This suggested approach holds promising potential as a decision-support tool for pathologists, particularly in regions with limited resources and expertise. The timely and precise detection of EC subtypes through this system can substantially enhance the likelihood of successful treatment, ultimately leading to reduced mortality rates in patients with this aggressive cancer.

Knowledge and awareness of warning signs about Lung cancer among Pharmacy and Nursing undergraduates in Riyadh, Saudi Arabia - an observational study.

Background: Cancer is becoming more common, regardless of gender or type. Cancer was determined to be the leading cause of death, with lung cancer (LC) patients having the highest rate of cancer-related deaths. The purpose of this study was to analyze undergraduates' knowledge and awareness of LC early warning signs in Riyadh, Saudi Arabia. Methods: Between May and September 2022, a cross-sectional, prospective paper-based survey-type study was conducted among undergraduates (n=202) from the faculty of pharmacy and nursing at King Saud University (KSU) in Riyadh, Saudi Arabia. The data was gathered from third and fourth-year undergraduates. The statistical package for social science (SPSS Inc., Chicago, IL, U.S.) was used to perform the analysis. Results: The mean age of the undergraduates was 22.47 ± 2.35(SD) years. Most of them were from nursing 54% (n=109), while 46% (n=93) belonged to a pharmacy. In terms of awareness of warning signs of lung cancer, 48.6% of the students believed that unexplained weight loss, followed by persistent chest infection (36.6%) and cough that does not go away easily (37.6%). Over 45.1 % of students opted that coughing up blood, pain during the cough (46.5%), and worsening or change in an existing cough (42.1%) were reported as a sign of LC. In this study, the overall good awareness score was 60(29.7%). The awareness was significantly associated with gender (p = 0.0001), the course of study (p=0.018), the educational level (p = 0.003), smoking cigarettes (p = 0.003), and chronic disease status (p = 0.0001). Conclusion: Undergraduates attending university in this study indicated various levels of awareness of LC symptoms. The undergraduate's educational background, study program, and gender all greatly influence their level of awareness. It is necessary to inform future medical professionals about this growing condition.

Knowledge of Cardiovascular Disease Risk Factors and Its Primary Prevention Practices Among the Saudi Public - A Questionnaire-Based Cross-Sectional Study.

Background and Objectives: In response to the aging population and rapid rise of chronic diseases, it is important to understand the knowledge about primary prevention. We aim to explore Saudi adults' knowledge of cardiovascular disease (CVD) risk factors and its primary prevention practices among the Saudi public. Methods: This is a cross-sectional community-based study, conducted among people living in Saudi Arabia to assess the knowledge of CVD risk factors using a total of 24-item questionnaires divided into two sections using the Likert scale, true /False/I do not know. The data were analyzed using the statistical software SPSS v. 26.0 (SPSS Inc., Chicago, IL, USA). Results: In this study, the 81.8% of participants (n=296) agreed that high blood pressure was a risk factor for CVD, while more than two-thirds (68.8%; n=249) believed that diabetes was a risk factor for CVD. Furthermore, about the same proportion of respondents ((79.8%; n=289) and (78.7%; n=285)) agreed that physical inactivity and smoking were risk factors for CVD. In addition, the vast majority of them (n=324; 89.5%) believed that regular exercise aids in the prevention of CVD. In contrast, 74.9% (n=271) of individuals agreed that quitting smoking helps prevent CVD. This study indicated that 55.8% (n=202) of respondents had strong knowledge of CVD, while 44.2% (n=160) had inadequate awareness of CVD risk factors and prevention methods. In terms of the association between socio-demographic factors and overall participants' knowledge of CVD risk factors and preventative measures, we discovered that age (p=0.000), gender (p=0.011), educational status (p=0.000), and the presence of chronic disease (p=0.000) were all significantly associated with CVD knowledge score levels. Conclusion: Saudi adults have adequate knowledge of CVD risk factors and prevention interventions, but more effort is needed to raise continuous awareness to reduce the prevalence of CVD.

Navigating Thyroid Dysfunction and Comorbidities Among University Students in Abbottabad, Pakistan - A Cross-Sectional Evaluation of Screening Tool for Thyroid Dysfunction.

Background: Thyroid dysfunction has a direct role in diagnosing, and assessment and indicates the development of thyroid carcinoma. This study aimed to assess thyroid dysfunction through medical camps in different age and sex groups in students of Comsats University Abbottabad Pakistan. Methods: In this study, a cross-sectional survey design was used. For data collection, a two-day medical camp was set in the Comsats University Abbottabad campus. The students were examined physically for symptoms of thyroid dysfunction using the survey questionnaire specifically designed for this study. Results: The current research revealed that 78 out of 1032 students, or 7.6% of the population, had thyroid disease. Although 39.3% (=406) were found to have low risk, followed by 36.7% (n=379) had moderate risk and 23.9% (n=247) had high risk of thyroid dysfunction. Altogether, 6.1% (n=63) of the students had high blood pressure (BP), 3.2% (n=33) had high cholesterolemia, 3.4% (n=33) had angina, and 0.9% (n=9) had diabetes mellitus (DM). In relation, students who exhibit signs and symptoms that last longer than five weeks include 42.2% (n=435) who felt the need for excessive sleep, 35.3% (n=364) who felt tired, 36.8% (n=380) who had trouble concentrating and 30.1% (n=311) who had palpitations. The high risk of thyroid being seen predominantly in students between the ages of 15-20 years (31.2%, n=148), as opposed to other age groups (p=0.001). Similar to this, women having a higher risk of thyroid disease (26.5%) than men (22.8%) (p =0.001). Conclusion: In conclusion, few students suffer with thyroid found to have high risk of thyroid disease. This method of questionnaire-based screening for thyroid dysfunction is cost-effective, with no additive risk of adverse effects from excessive screening, and could help in the early detection of thyroid and help avoid excess costs related to thyroid dysfunction and cancer screening.

The Impact of Cancer Relapse and Poor Patient Outcomes on Health Care Providers Practicing in the Oncology Field.

INTRODUCTION: Devastating cancer-related events are not uncommon, and these events have weakened communication performance and induced stress among health care providers (HCPs), particularly physicians. This study aimed to investigate the perspective of HCPs emotionally affected by poor clinical outcomes due to the failure of cancer therapy. METHODS: A cross-sectional, online survey was conducted over 3 months among HCPs practicing in the field of oncology in Saudi Arabia, comprising physicians, pharmacists, and nurses. Data were analyzed using Statistical Package for Social Sciences version 26.0. A P-value <.05 was considered statistically significant. RESULTS: This study demonstrated a positive correlation between HCPs' length of experience and emotional impact of treatment failure, albeit this was not statistically significant (P = .071). Analysis of their perspective toward failure of cancer therapies revealed a significant impact of occupation and sex (P = .014 and P = .047, respectively). Moreover, occupation played a significant role in shaping the viewpoint of HCPs toward the need for conducing further research to test the appropriateness of treatment protocols on local patients (P = .022). Despite the emotional responses of HCPs to suboptimal clinical outcomes, factors such as work burnout, lack of concentration and patience, work or personal problems, and under appreciation were frequently identified as triggers of such outcomes. CONCLUSION: Our results revealed that poor clinical outcomes observed among cancer patients are emotional triggers for HCPs practicing in the oncology field. The emotional response is often perceived negatively, and can potentially lead to a decline in the quality of care provided to these patients.

Prevalence, knowledge and attitude toward electronic cigarette use among male health colleges students in Saudi Arabia-A cross-sectional study.

Background: Health care professionals have an important role in increasing awareness about smoking harms and serving as role models. This study aims to assess knowledge, attitude and perception toward electronic cigarettes (ECs) as well as prevalence of ECs use among male health colleges students. Method: This is a cross-sectional survey-based study conducted among students in the male campus of five different health colleges over a 4-month period from February 2020 to May 2020. Descriptive analysis was used to assess the knowledge, perception and attitude, and inferential testing was used to evaluate the association of different participant's variables and knowledge toward ECs usage using SPSS. Results: A total of 333 students were included in the analysis. Most of students (n = 205; 61.6%) had never used ECs, while 22.8 and 15.6% used them for recreational and smoking cessation purposes, respectively. Focusing on ECs users from each college individually, medical students had the highest prevalence followed by dental, pharmacy and nursing students (47.4, 40.7, 34.5, and 32%, respectively). Many students had misconceptions and a low level of knowledge about ECs, such as recognizing them as smoking-cessation tools and not knowing whether toxic and carcinogenic components levels in ECs are similar to conventional cigarettes, respectively. Medical students had significantly higher knowledge compared to dental students [3 (2) vs. 2 (1); p = 0.033]. Moreover, smokers were less knowledgeable than non-smokers [2.5 (1) vs. 2.1 (1), p = 0.027]. At least 62.8% of students perceived using ECs as a fashionable alternative smoking method and 59.2% believed that they may become a gateway for smoking addiction. Only 120 (36.0%) health colleges students were confidently able to advise smokers regarding ECs. Conclusion: Our study highlights an increased trend of ECs use accompanied with insufficient knowledge and several misconceptions about ECs among health colleges students. This was associated with a negative influence on their attitude toward ECs use, which would potentially lead to negative consequences on public health.

Evaluation of clinical knowledge and perceptions about the development of thyroid cancer-An observational study of healthcare undergraduates in Saudi Arabia.

Background and objective: In the healthcare context, healthcare personnel are available to help patients according to their requirements. However, having sufficient knowledge of many elements of diseases before graduation may have a good impact on clinical practices later in one's career. As a result, the purpose of this study was to assess the clinical knowledge and perceptions of healthcare students in Saudi Arabia about thyroid cancer (TC). Methods: A cross-sectional study was conducted in King Saud University from August 2021 to November 2021, using a validated self-reporting online survey. The data collection was carried out among senior healthcare students, including pharmacy, nursing, and medical students of both genders, who were Arabic speakers. The data were analyzed using the Statistical Package for the Social Sciences version 26 for Windows (SPSS). Results: There were 141 healthcare students who responded, with 46.8% (n = 66) being pharmacy students, 28.4% (n = 40) being nursing students, and 24.8% (n = 35) being medical students. Male participants made up the majority of them (52.5%). Lump or swelling in the neck was described as the most common early indicator of TC by 54.6% (n = 77), followed by difficulty in swallowing by 34.04% (n = 48), and pain in the neck by 24.8% (n = 35). Female participants accounted for 44.7% (n = 63) of those with thyroid dysfunction, according to the study. About 55.3% of the participants (n = 78), reported that they had sufficient knowledge about TC. The knowledge score differed significantly by gender; female participants (60.3%) (n = 47) were more knowledgeable than male participants (30.7%) (n = 31) (p = 0.049). Conclusion: This study depicts that half of the healthcare students thatwere knowledgeable about TC had positive perceptions about the causes of diseases. Furthermore, we also recommend arranging awareness programs for the students by the university officials to overcome the knowledge gap.

Attitudes and Associated Demographic Factors Contributing towards the Abuse of Illicit Drugs: A Cross-Sectional Study from Health Care Students in Saudi Arabia.

Background and objective: The purpose of this study is to compare the attitudes, views, and factors that influence drug abuse among pharmacy and nursing students at a Saudi Arabian university. Materials and Methods: A cross-sectional study, was conducted among pharmacy and nursing students who are currently enrolled in the respective courses at the study site. The data were collected over 4 months from August to November 2019 using structured self-administered paper-based questionnaires. Results: Among the participants, pharmacy students accounted for 184 (58.2%) while 132 (41.8%) of the students were from nursing. More than a third of the students 129, (40.8%) smoked cigarettes. The majority of pharmacy (80.4%) and nursing students (67.4%) reported having undertaken a drug misuse course in college. Among the participants, 132 (41.7%) stated that an offer from friends, followed by joy seeking 129 (40.8%), parents' divorce 126 (39.8%), having access to drugs 125 (39.5%), family issues 110 (34.8%), 66 (20.8%) having a family member who is addicted, and 101 (31.9%) reported curiosity to be the factors regarding the use of abusive drugs. Transient euphoria (75.9%) followed by depression 197 (62.3%) was the most prevalent physical or psychological change that occurred following drug use. The family size and father's education have significantly affected the attitudes scores of the students (F = 5.188; p = 0.0001). Conclusion: In this study, joy-seeking, access to drugs, and family issues were found to be the major factors listed as reasons for drug abuse, with some of them being controllable or reversible. Educating about the adverse outcomes of abused drugs is warranted.

A study on diabetes-related self-care plan and its determinants among diabetes patients in a Warangal region, Telangana, India

Abstract The prevalence of epidemiological diseases, including diabetes, has continued to increase because of the adaption of Western culture and the lack of self-care activities among patients with diabetes. Therefore, in this cross-sectional study, we aimed to assess self-care plans and determinants among diabetes outpatients in Warangal. We conducted a prospective observational study among diabetes outpatient clinic in Warangal, India over 6 months from October 2019 to March 2020. We used the expanded Summary of Diabetes Self-Care Activities (SDSCA) questionnaire. A P value of less than < 0.05 was considered statistically significant. Respondents (mean age, 52.3 (standard deviation (SD), 11.01) years) had an overall SDSCA score of 49.18 ± 3.57 (SD). Mean scores for the diet, physical activity, foot care, medication adherence, and blood sugar testing scales were 12.79 (SD, 1.61), 10.24 (SD, 1.77), 15.67 (SD, 1.5), 5.66 (SD, 1.17), and 4.80 (SD, 0.68), respectively. Patients' age, education, disease duration and hemoglobin A1C (HbA1C) levels of <7.5% (P < 0.001)) had significantly higher mean scores for blood sugar testing, diet, physical activity, and adherence (P < 0.001). The employment status is associated with all the domains of Summary of Diabetes Self-Care Activities (P < 0.001). Taken together, our results revealed that patients with diabetes in Warangal had poor self-care planning, highlighting the need for strengthening initiatives that generate awareness regarding diabetes and improving related self-care practices

Vitamin D status correlates with the markers of cystic fibrosis-related pulmonary disease.

BACKGROUND: The prevalence of Vitamin D deficiency remains high in cystic fibrosis despite daily supplementation. Vitamin D as an immunomodulator has been related to lower respiratory tract infections in children. The present study was undertaken to examine the association between vitamin D status and markers of cystic fibrosis-related pulmonary disease including exacerbations, bacterial colonization and pulmonary function. METHODS: The study includes review of records of 51 cystic fibrosis patients. Baseline patient variables and serum vitamin D levels were recorded. Based on vitamin D levels study patients were divided into three groups: vitamin-D sufficient (≥20 ng/mL), vitamin-D insufficient (12 to 20 ng/mL), and vitamin D-deficient (≤12 ng/ml). RESULTS: The proportion of children with deficient, insufficient and sufficient vitamin D levels were 47.1%, 15.7%, and 37.2%, respectively. Female sex, bacterial colonization and a greater number of exacerbations were associated with highest odds of developing vitamin D deficiency in patients with CF with 1.77 (0.22-4.61) (p = 0.002), 2.9(0.57-14.82) (p = 0.011), and 5.12 (1.28-20.50) (p = 0.021) respectively. The comparison of vitamin-D levels taken during exacerbations, colonization and during routine follow-up were significant [16.04 (7.42-27.91), 24.3 (15.5-32.4) and 48.54 (18.37-78.7) ng/ml, p < 0.001]. The FEV1 was determined in 24 patients; the comparison was significant between vitamin D-deficient and -sufficient groups [0.75 (0.717-0.777) vs. 0.82 (0.74-0.92) p < 0.05]. CONCLUSION: We concluded that vitamin D deficiency was highly prevalent in children with CF, despite daily supplementation of the vitamin in diet. Further, vitamin D deficiency was associated with a higher rate of pulmonary exacerbations and higher incidence of pulmonary bacterial colonization. In addition, in younger patients, low vitamin D levels were associated with reduced pulmonary function.

Prevalence of Depression among Caregivers of Indian Children with Cystic Fibrosis.

OBJECTIVE: To study the prevalence of depression among caregivers of children with cystic fibrosis and its impact on the health and well being of these children. METHODS: This cross-sectional study was conducted in a tertiary care hospital from September 2015 through August 2016. Forty one parents of children receiving treatment at the Cystic fibrosis (CF) clinic were approached to be part of the study. Six families declined the request resulting in 85% recruitment rate. The Centre for Epidemiological Studies Depression Scale (CES-D) was used to assess depression score among caregivers. The CES-D provides clinical cut-off scores of ≥16 that help in identifying persons at risk for depression. CES-D was completed by the parent closely associated with care of the affected child. Main outcome measure was to find the number of caregivers of patients who has score of ≥16 on CES-D scale, and its effect on growth and respiratory exacerbations of the affected child. RESULTS: A total of 23 fathers and 12 mothers participated in the study. The mean age of male and female caregivers was 30.9 ± 5.4 and 27.8 ± 4.7 y respectively. Eighteen (51.4%) caregivers scored above the clinical cut-off on the CES-D in the index study with mean score of 22.0 ± 4.0. The mean CES-D score among non-depressive caregivers was 7.76 ± 4.2. Significant negative association was found between parental depression and child's health. Children with high parental CES-D score suffered significantly more respiratory exacerbations (3.83 ± 1.2 episodes) in last six months than parents with low CES-D score (2.18 ± 1.28 episodes) (p value = 0.00). Similarly, stunting was more commonly seen in patients with high caregiver CES-D score (15 vs. 7; P value = 0.01). CONCLUSIONS: A very high prevalence of caregiver depression was found in cystic fibrosis, which negatively impacted care and well being of the affected patients. Depression was more common in families with poor economic and education level.

The Diagnostic Dilemma of Traumatic Lumbar Puncture: Current Standing of Cerebrospinal Fluid Leukocyte Corrections and Our Experience With Cerebrospinal Fluid Biomarkers.

OBJECTIVE: To assess the diagnostic efficiency of cerebrospinal fluid markers of procalcitonin, lactate, and cerebrospinal fluid/serum lactate ratio for detecting bacterial meningitis during traumatic lumbar puncture, and to compare these markers with routinely used uncorrected and corrected leukocyte measurements. METHODS: Infants aged ≤90 days with traumatic lumbar puncture were prospectively studied. The diagnostic characteristics of cerebrospinal fluid assays of uncorrected and corrected leukocyte count, procalcitonin, lactate, and lactate ratio were described and compared. RESULTS: Considering the area under the curve (95% CI) analysis and standard cutoff values, the lactate-ratio (0.985 [0.964-0.989] at cutoff 1.2) had the best test indexes for identifying meningitis, followed by lactate (0.964 [0.945-0.984] at cutoff 2.2 mmol/L) and procalcitonin (0.939 [0.891-0.986] at cutoff 0.33 ng/mL) measurement, whereas the corrected total leukocyte count assay (0.906 [0.850-0.962] at cutoff 350 cells/mm3) had diagnostic properties moderately superior to uncorrected total leukocyte count measurement (0.870 [0.798-0.943] at cutoff 430 cells/mm3). CONCLUSION: Cerebrospinal fluid levels of procalcitonin, lactate, and lactate-ratio are reliable markers to diagnose bacterial meningitis in blood-contaminated cerebrospinal fluid.

Cerebrospinal fluid lactate: a differential biomarker for bacterial and viral meningitis in children / Lactato no líquido cefalorraquidiano: um marcador diferencial para meningite bacteriana e meningite viral em crianças

Abstract Objective: To assess the performance of cerebrospinal fluid (CSF) lactate as a biomarker to differentiate bacterial meningitis from viral meningitis in children, and to define an optimal CSF lactate concentration that can be called significant for the differentiation. Methods: Children with clinical findings compatible with meningitis were studied. CSF lactate and other conventional CSF parameters were recorded. Results: At a cut-off value of 3 mmol/L, CSF lactate had a sensitivity of 0.90, specificity of 1.0, positive predictive value of 1.0, and negative predictive value of 0.963, with an accuracy of 0.972. The positive and negative likelihood ratios were 23.6 and 0.1, respectively. When comparing between bacterial and viral meningitis, the area under the curve for CSF lactate was 0.979. Conclusions: The authors concluded that CSF lactate has high sensitivity and specificity in differentiating bacterial from viral meningitis. While at a cut-off value of 3 mmol/L, CSF lactate has high diagnostic accuracy for bacterial meningitis, mean levels in viral meningitis remain essentially below 2 mmol/L.

Resumo Objetivo: Estudar o desempenho do lactato no líquido cefalorraquidiano como biomarcador para diferenciar a meningite bacteriana da meningite viral em crianças, e definir uma concentração de lactato ótima no líquido cefalorraquidiano que possa ser significativa para a diferenciação. Métodos: Foram estudadas crianças com achados clínicos compatíveis com meningite. O nível de lactato no líquido cefalorraquidiano e outros parâmetros convencionais do líquido cefalorraquidiano foram registrados. Resultados: Em um valor de corte de 3 mmol/L, o lactato no líquido cefalorraquidiano apresentou uma sensibilidade de 0,90, especificidade de 1,0, valor preditivo positivo de 1,0, valor preditivo negativo de 0,963, com uma precisão de 0,972. Os índices de probabilidade positivo e negativo foram 23,6 e 0,1, respectivamente. Para comparação entre a meningite bacteriana e viral, a área abaixo da curva do lactato no líquido cefalorraquidiano foi 0,979. Conclusões: Concluímos que o lactato no líquido cefalorraquidiano possui alta sensibilidade e especificidade na diferenciação da meningite bacteriana da meningite viral. Embora em um valor de corte de 3 mmol/L o lactato no líquido cefalorraquidiano possua alta precisão de diagnóstico da meningite bacteriana, os níveis médios na meningite viral permanecem basicamente abaixo de 2 mmol/L.

Flexible Bronchoscopy in Non-resolving Pneumonia.

OBJECTIVE: To study the utility of diagnostic flexible bronchoscopy and bronchoalveolar lavage (BAL) in children with non-resolving pneumonia. METHODS: This was a cross-sectional study conducted in a tertiary care hospital from July 2015 through June 2016. Fifty-two consecutive children of both genders from 1 mo to 14 y of age with a diagnosis of non-resolving pneumonia were included. Flexible bronchoscopy was done in all patients with or without bronchoalveolar lavage (BAL). BAL was sent for gram staining, culture, gene expert™ and lipid laden macrophages examination. Main outcome measures were to find any morphological abnormality in the tracheobronchial tree and organism profile of a positive BAL culture. RESULTS: During the period of 12 mo, 52 consecutive patients of non-resolving pneumonia were enrolled. Median (IQR) age of the study population was 12 (68.8) mo. Mean ± SD duration of illness was 22.7 ± 5.6 d. Flexible bronchoscopy was found to be very safe and effective tool that directly led to definitive diagnosis in 30.7% of cases. It was positive for different organisms in 22 (52.3%) children. Neglected foreign body was seen in five patients. CONCLUSIONS: Non-resolving pneumonia is often an area of clinical dilemma. Bacterial infections are the commonest etiology. Non-infectious causes like tracheobronchomalacia and foreign body aspiration are other important etiologies to be looked for. Early bronchoscopy and bronchoalveolar lavage analysis can play a crucial role in the evaluation of these patients and may provide an important clue or strongly support the specific diagnosis.

Hereditary folate malabsorption with extensive intracranial calcification.

BACKGROUND: Anemia is a common accompaniment of cerebral palsy, mental retardation and neurodegenerative disorders. CLINICAL CHARACTERISTICS: A 4-year-old boy with chronic megaloblastic anemia, global developmental delay, seizures, intracranial calcification and new onset neuro-regression. OBSERVATION: A diagnosis of hereditary folate malabsorption was made, and he was put on oral and injectable folinic acid. OUTCOME: Marked improvement at 6 month follow up. MESSAGE: Hereditary folate malabsorption should be suspected in any child having megaloblastic anemia and neuro degeneration disorder.

Clinical and mutation profile of children with cystic fibrosis in Jammu and Kashmir.

OBJECTIVE: To study the clinical and mutation profiles of children with cystic fibrosis in Jammu and Kashmir. METHODS: One hundred consecutive patients presenting with one or more phenotypic features suggestive of cystic fibrosis (CF) were screened by quantitative sweat chloride testing. For patients with positive/equivocal test result on two occasions, CFTR gene mutation analysis was done by polymerase chain reaction. RESULTS: Of the 100 patients, 18 (10 females) were diagnosed to have CF at a median age of 10.5 y (IQR 4.75-15.25 y) while the median age at the onset of symptoms was 12 mo (IQR 4-63 mo) with a delay in diagnosis by 102.4±80.5 months. Clinical features at presentation included failure to thrive (94.4%), chronic cough (78%), recurrent pneumonia (61%), persistent pneumonia (11%), and chronic diarrhea (50%). Positive sweat chloride (>60 meq/L) was seen in 14 (14%) patients and 4 (4%) patients had equivocal (40-60 meq/L) value on two different occasions. Mutational analysis done in 15 patients showed DeltaF508 mutation in 20% (3/15) patients in homozygous form and in 13% (2/15) patients in heterozygous form. Intron 19 mutation 3849+10kb C>T was found in 40% (6/15) in heterozygous form. One (6.6%) patient had DeltaF508 and 3849+10kbC>T mutations in compound heterozygous form. Patients with equivocal sweat chloride and 3849+10kbC>T mutation had delayed onset of pulmonary involvement. CONCLUSION: 3849 +10kbC>T mutation appears to be common in children with cystic fibrosis in Jammu and Kashmir followed by DeltaF508, although the data are quite limited. Although presentation is delayed and sweat chloride is in the equivocal range, severe lung involvement may occur in these patients.