Positive Family History Research Articles

Clinical Characteristics of Patients with De Novo Parkinson's Disease and a Positive Family History.

Background/Objectives: A family history of Parkinson's disease (PD) is an important risk factor for developing PD. Because only a few studies have investigated the clinical characteristics of PD patients based on family history, this study compared the clinical characteristics of PD patients with and without a family history of PD. Methods: The study involved 356 patients with de novo PD. The data on the patients' PD family histories were obtained from the patients and their caregivers. Motor and non-motor PD symptoms were assessed using the appropriate scales. Results: Out of the 356 PD patients, 26 (7.3%) had a family history of PD. Compared with patients without a family history of PD, those with a family history of PD tended to be younger at diagnosis (67.9 years vs. 62.2 years, respectively; p = 0.009) and exhibited significantly more severe rigidity (p = 0.036). Motor subtype was not different between the PD patients with and without a family history. PD patients with a family history experienced significantly fewer falls/cardiovascular symptoms within the Non-Motor Symptoms Scale domains (p = 0.001) compared to their counterparts, although this was not statistically significant upon adjusting for age (p = 0.119). Conclusions: In de novo PD patients, having a family history of PD is associated with a younger age at diagnosis and more severe rigidity.

Familial aggregation of urolithiasis: findings from a Nationwide Middle Eastern study.

This study aimed to determine the potential effect of genetic factors and positive family history on the familial aggregation of urolithiasis in Iran. Of the total 44,186 participants in the Iran National Stone Survey (INSS) database, 34,953 individuals who were members of 8629 nuclear families were included in this study. The mean prevalence of urolithiasis was 5.7% [95%CI: 5.5 - 6.0%] in this subpopulation. Familial aggregation of urolithiasis was analyzed in 34,745 participants (99.6% of those originally included) utilizing a multivariable logistic regression with second order generalized estimating equations approach (GEE2) to adjust for sex, age, urbanization status and ethnicity. Recurrence risk ratios (λ) were used to evaluate the degree of familial aggregation. Our multivariable analysis demonstrated a strong familial aggregation of urolithiasis within sibling pairs (λs = 78.35), parent-offspring pairs (λo = 40.12) and spouse pairs (λsp = 21.62). The respective ORs were 5.65 [95%CI: 3.49, 9.14] for siblings, 2.85 [95%CI: 2.20, 3.68] for parents and 1.27 [95%CI: 1.06, 1.54] for spouses. Urinary stone disease tends to aggregate in families with a positive history of urolithiasis in either the parents or siblings. Siblings have a more prominent effect in inducing familial aggregation compared to parents. Despite the prominent role of familial genetic components in urolithiasis aggregation, shared environmental factors appear to partake in this phenomenon to some extent, as suggested by urolithiasis aggregation among spouse pairs.

In-depth exploration of differences of sex development: 5-year experience in a tertiary center.

Differences/disorders of sex development (DSD) encompass a wide range of conditions. Their clinical spectrum and etiological diagnosis have not been reported in Moroccan patients. The study aims to highlight the clinical spectrum, etiological diagnosis, and management of patients with DSD. This is a retrospective study of all patients diagnosed with DSD under the age of 18 years, who were referred to the Pediatric Endocrinology Department and the Medical Genetics Laboratory at HASSAN II University Hospital of Fez between June 2018 and June 2023. Out of 57 patients, 54.4% (n = 31) were diagnosed with 46,XX DSD, the most common type, while 45.6% (n = 26) had 46,XY DSD. Patients with 46,XX DSD presented earlier than those with 46,XY DSD, at a median age of 0.08 years and 0.96 years, respectively. The most commonly reported complaint was atypical genitalia. At the first presentation, the sex of rearing was already assigned to 26 males and 27 females. All patients with 46,XX DSD were diagnosed with congenital adrenal hyperplasia (CAH) at a median age of diagnosis of 0.92 years. Of these, 11 patients were raised as males. Disorders of androgen action or synthesis were more common in XY patients (69.2%). The consanguinity rate was 46.5%, and there were 19 cases with a positive family history, with 10 siblings having died. DSD are not rare in Morocco. Overall, CAH remains the most frequent DSD etiology. Molecular genetic analyses are needed to determine the accurate etiological distribution of DSD, especially in XY patients.

Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.

Prior to next-generation sequencing (NGS), the evaluation of a patient with neuropathy typically consisted of screening for acquired causes, followed by clinical genetic testing of PMP22, MFN2, GJB1, and MPZ in patients with a positive family history and symptom onset prior to age 50. In this study, we examined the clinical utility of NGS in a large cohort of patients analyzed in a commercial laboratory. A cohort of 6849 adult patients underwent clinician-ordered peripheral neuropathy multigene panel testing ranging from 66 to 111 genes that included NGS and intragenic deletion/duplication analysis. A molecular diagnosis was identified for 8.4% of the cohort (n = 573/6849). Variants in PMP22, MFN2, GJB1, MPZ, and TTR accounted for 73.8% of molecular diagnoses. Results had potential clinical actionability for 398 (69.5%) patients. Our results suggest that 225/573 (39.3%) of molecular diagnoses and 113/398 (28.4%) of clinical interventions would have been missed if the testing approach had been restricted to older guidelines. Our results highlight the need for expanded genetic testing guidelines that account for the increased number of genes associated with hereditary neuropathy, address the overlap of acquired and hereditary neuropathy, and provide broader access to genetic diagnosis for patients.

Analysis of sociodemographic profile of glaucoma patients with risk factors, subtypes, and disease severity in a tertiary eye care facility in Northern India.

To study the different subtypes of glaucoma and to analyze the demographic and clinical profile of glaucoma patients along with associated risk factors in a multi-locational North Indian study. Newly diagnosed and known glaucoma patients on treatment were enrolled in the study. Complete history was taken, and clinical evaluation was done by senior glaucoma experts. Five hundred and eighty-six patients (1121 eyes) were included with 383 males (65.4%) and 203 females (34.6%). Of these, 508 (86.7%) had primary glaucoma and 78 (13.3%) had secondary glaucoma. Also, 263 (44.9%) patients had primary open angle glaucoma (POAG) and 172 (29.4%) had primary angle closure glaucoma. Four hundred and fifty-one (77%) were graduates or postgraduates and 293 (50%) were dependents on family income. One hundred and forty-one (24%) had a positive family history. Secondary glaucoma patients had a lower average age (52.6 ± 16.8 years) and higher average intraocular pressure (IOP; 34.23 ± 13 mm) compared to primary glaucoma patients (26.6 ± 9.7 mm) (P < 0.0001). Thirty-three (47.8%) out of 78 secondary glaucoma patients had advanced disease. Seventy-four (12.6%) were first-time diagnosed and 18 had advanced disease. In addition, 161 eyes had one or more glaucoma surgeries done (128 trabeculectomy and 28 phacotrabeculectomy). Ninety-five (16.2%) patients were advised surgery at our centers (46 trab, 26 phacotrab, 15 phaco, five Ahmed glaucoma valve implantation, and three pars plana vitrectomy). Disease progression was noted in 62 patients reporting good compliance to medicines. POAG was the most common variant in this study. Secondary glaucoma patients were youngest in age and had the highest IOP. Trabeculectomy was the most performed surgery. A good literacy rate did not prevent late presentations.

Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.

Pathogenic variants in the Cu/Zn superoxide dismutase (SOD1) gene can be detected in approximately 2% of sporadic and 11% of familial amyotrophic lateral sclerosis (ALS) patients in Europe. We analyzed the clinical phenotypes of 83 SOD1-ALS patients focusing on patients carrying the most frequent (likely) pathogenic variants (R116G, D91A, L145F) in Germany. Moreover, we describe the effect of tofersen treatment on ten patients carrying these variants. R116G patients showed the most aggressive course of disease with a median survival of 22.0months compared to 198.0months in D91A and 87.0months in L145F patients (HR 7.71, 95% CI 2.89-20.58 vs. D91A; p < 0.001 and HR 4.25, 95% CI 1.55-11.67 vs. L145F; p = 0.02). Moreover, R116G patients had the fastest median ALSFRS-R progression rate with 0.12 (IQR 0.07-0.20) points lost per month. Median diagnostic delay was 10.0months (IQR 5.5-11.5) and therefore shorter compared to 57.5months (IQR 14.0-83.0) in D91A (p < 0.001) and 21.5months (IQR 5.8-38.8) in L145F (p = 0.21) carriers. As opposed to D91A carriers (50.0%), 96.2% of R116G (p < 0.001) and 100.0% of L145F (p = 0.04) patients reported a positive family history. During tofersen treatment, all patients showed a reduction of neurofilament light chain (NfL) serum levels, independent of the SOD1 variant. Patients with SOD1-ALS carrying R116G, D91A, or L145F variants show commonalities, but also differences in their clinical phenotype, including a faster progression rate with shorter survival in R116G, and a comparatively benign disease course in D91A carriers.

Lipoprotein(a) in Children and Adolescents: Risk or Causal Factor for Cardiovascular Disease? A Narrative Review.

The evaluation of serum Lp(a) values in childhood and adolescence has been widely debated, and in the last few years, many authors have tried to better define Lp(a) role in atherosclerosis pathogenesis, starting from childhood. In our narrative review, we have evaluated the main historical stages of Lp(a) studies in childhood, trying to focus on pathogenic mechanisms linked to elevated serum Lp(a) values, starting from ischemic stroke and vascular damage, and to its possible direct involvement in premature atherosclerosis from childhood onwards. Historic manuscripts on Lp(a) in pediatric patients have mainly focused on serum Lp(a) values and increased stroke risk. More recently, many studies have evaluated Lp(a) as a coronary vascular disease (CVD) risk factor starting from childhood, especially related to a positive family history of premature CVD. Finally, only a few studies evaluated the role of Lp(a) in premature atherosclerotic processes and endothelial and vascular damage in pediatric patients. Lastly, we have hypothesized a future perspective, with the hope that plasma Lp(a) levels will be treated with a tailored pharmacologic approach, and Lp(a) will become a precocious therapeutic target to control the atherosclerotic pathways from the first years of life.

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Recent-onset dilated cardiomyopathy (RODCM) is characterized by heterogeneous aetiology and diverse clinical outcomes, with scarce data on genotype-phenotype correlates. Our aim was to correlate individual RODCM genotypes with left ventricular reverse remodelling (LVRR) and clinical outcomes. In this prospective study, a total of 386 Czech RODCM patients with symptom duration ≤6months underwent genetic counselling and whole-exome sequencing (WES). The presence of pathogenic (class 5) or likely pathogenic (class 4) variants in a set of 72 cardiomyopathy-related genes was correlated with the occurrence of all-cause death, heart transplantation, or implantation of a ventricular assist device (primary outcome) and/or ventricular arrhythmia event (secondary outcome). LVRR was defined as an improvement of left ventricular ejection fraction to >50% or ≥10% absolute increase, with a left ventricular end-diastolic diameter ≤33mm/m2 or ≥10% relative decrease. Median follow-up was 41months. RODCM was familial in 98 (25%) individuals. Class 4-5 variants of interest (VOIs) were identified in 125 (32%) cases, with 69 (18%) having a single titin-truncating variant (TTNtv) and 56 (14%) having non-titin (non-TTN) VOIs. The presence of class 4-5 non-TTN VOIs, but not of TTNtv, heralded a lower probability of 12-month LVRR and proved to be an independent baseline predictor both of the primary and the secondary outcome. The negative result of genetic testing was a strong protective baseline variable against occurrence of life-threatening ventricular arrhythmias. Detection of class 4-5 VOIs in genes coding nuclear envelope proteins was another independent predictor of both study outcomes at baseline and also of life-threatening ventricular arrhythmias after 12months. Class 4-5 VOIs of genes coding cytoskeleton were associated with an increased risk of life-threatening ventricular arrhythmias after baseline assessment. A positive family history of dilated cardiomyopathy alone only related to a lower probability of LVRR at 12months and at the final follow-up. RODCM patients harbouring class 4-5 non-TTN VOIs are at higher risk of progressive heart failure and life-threatening ventricular arrhythmias. Genotyping may improve their early risk stratification at baseline assessment.

Rhinophyma – Case Report of a 67-Year-Old Male with Extensive Nodular Changes of the External Nose in the Course of Rosacea

&lt;b&gt;Introduction:&lt;/b&gt; Rhinophyma is a particularly advanced form of rosacea. It typically affects middle-aged and elderly men. It develops due to significant hypertrophy of the sebaceous glands, blood vessels, and connective tissue of the nasal skin. The external nose becomes enlarged, with the skin becoming thickened, fibrous, and oily. When pressure is applied, a mixture of sebum and blood may be expelled. Facial deformity often leads to social withdrawal in affected individuals. In extreme cases, it can lead to nasal passage obstruction.&lt;b&gt;Case report:&lt;/b&gt; This paper discusses the case of a 67-year-old male patient with a long history of rosacea. A diagnosis of rhinophyma was established, and surgical treatment was employed, yielding satisfactory results. Various methods of treating rhinophyma are described.&lt;b&gt;Discussion:&lt;/b&gt; The diagnosis of rosacea is based on medical history and characteristic skin changes on the face, with histopathological examination being decisive in doubtful cases. The etiopathogenesis of the condition is not well understood. Risk factors may include a positive family history of rosacea, improper treatment of rosacea, smoking, and excessive alcohol consumption.&lt;b&gt;Conclusions:&lt;/b&gt; The treatment of choice for rhinophyma is surgical intervention. Patients should be informed about the possibilities that modern medicine offers in the treatment of rhinophyma. This can improve both nasal patency and external appearance, significantly enhancing the patient’s psychological comfort.

Evaluation of homeobox protein B13 (HOXB13) gene G84E mutation in patients with prostate cancer.

To comprehensively investigate the potential association between prostate cancer (PCa) and the G84E mutation within the Homeobox Protein B13 (HOXB13) gene among individuals of Turkish descent, our study aims to undertake a prospective examination. We evaluated 300 patients (150 diagnosed with prostate cancer, 150 controls) who presented in our clinic. Data collected were prospectively examined. DNA isolation was performed using an isolation kit. The HOXB13-G84E mutation (rs138213197) was analyzed in the obtained samples. Data encoding and statistical analysis were performed. The pathological allele for the G84E mutation was T. According to the findings, no mutations were detected in the control group, while the G84E mutation was detected in 17 patients in the patient group, all of whom had the TC genotype. The analysis showed that having the CC genotype reduced the risk of prostate cancer by 0.47 times (OR=0.47, CI=0.415-0.532). Our results did not support a trend toward family history or earlier-onset disease in comparisons between carriers and non-carriers of HOXB13 G84E mutation. Individuals with a positive family history exhibited a higher frequency of the G84E mutation. We concluded that HOXB13 gene mutation is indeed linked to PCa in Turkish men. However, we did not find a relationship between the HOXB13 gene G84E mutation carrier status and either early-onset PCa or familial PCa in Turkish men.

Diagnostic delay in inflammatory bowel diseases in a German population.

Early diagnosis is key to prevent bowel damage in inflammatory bowel disease (IBD). Risk factor analyses linked with delayed diagnosis in European IBD patients are scarce and no data in German IBD patients exists. To identify risk factors leading to prolonged diagnostic time in a German IBD cohort. Between 2012 and 2022, 430 IBD patients from four Berlin hospitals were enrolled in a prospective study and asked to complete a 16-item questionnaire to determine features of the path leading to IBD diagnosis. Total diagnostic time was defined as the time from symptom onset to consulting a physician (patient waiting time) and from first consultation to IBD diagnosis (physician diagnostic time). Univariate and multivariate analyses were performed to identify risk factors for each time period. The total diagnostic time was significantly longer in Crohn's disease (CD) compared to ulcerative colitis (UC) patients (12.0 vs 4.0 mo; P < 0.001), mainly due to increased physician diagnostic time (5.5 vs 1.0 mo; P < 0.001). In a multivariate analysis, the predominant symptoms diarrhea (P = 0.012) and skin lesions (P = 0.028) as well as performed gastroscopy (P = 0.042) were associated with longer physician diagnostic time in CD patients. In UC, fever was correlated (P = 0.020) with shorter physician diagnostic time, while fatigue (P = 0.011) and positive family history (P = 0.046) were correlated with longer physician diagnostic time. We demonstrated that CD patients compared to UC are at risk of long diagnostic delay. Future efforts should focus on shortening the diagnostic delay for a better outcome in these patients.

Study of Clinical Correlates and Symptomatology with Level of Functioning in Patients with Schizophrenia

Abstract Background: The burden of schizophrenia is largely due to deficits it causes in functioning. However, the variables influencing and predicting real-life functioning have not been systematically investigated in such patients. Aims: The aims of this study were to study the sociodemographic data, illness-related variables, and level of functioning in patients with schizophrenia and to assess the relationship between clinical correlates, symptomatology, and level of functioning. Materials and Methods: This was a cross-sectional study conducted in the psychiatry outpatient department of a teaching hospital. Sociodemographic and illness-related data were collected using a semi-structured pro forma. Schizophrenia was diagnosed as per the International Classification of Diseases-10 criteria, and severity of symptoms was rated using Positive and Negative Syndrome Scale (PANSS). Functional outcomes were rated using the Social and Occupational Functioning Assessment Scale (SOFAS) and Specific Level of Functioning (SLOF) scale. The data were compiled, tabulated, and analyzed. Results: A total of 170 patients suffering from schizophrenia with a mean age of 38.22 years were recruited for the study. On the SOFAS, 56.5% of patients scored more than 60, indicating good functionality. It was found that age at onset had a positive correlation, whereas duration of illness, duration of untreated psychosis (DUP), positive family history of psychosis, and PANSS scores had a negative correlation with SOFAS and SLOF subdomain scores. Conclusion: In patients with schizophrenia, male gender, unemployment, positive family history of psychosis, lower age at onset, longer duration of illness, longer DUP, and greater symptom severity (positive and negative) are associated with poor functioning.

The intergenerational association of preterm birth: A systematic review and meta-analysis.

Around half of preterm births lack identifiable causes, indicating the need for further investigation to understand preterm birth risk factors. Existing studies on the intergenerational association of preterm birth showed inconsistency in effect size and direction. This systematic review and meta-analysis aimed to review existing studies and provide comprehensive evidence on the intergenerational association of preterm births. We searched MEDLINE, Embase and Maternity and Infant Care databases, from the inception of each database to 04 April 2024. Eligibility criteria included studies that reported on women who had given birth and had recorded information about a family history of preterm birth in one or both of the child's biological parents. Data were extracted by two independent reviewers. A random-effects model was used to compute pooled estimates using odds ratios. Sixteen eligible studies with a total of 2 271 612 mothers were included. The findings indicated a 1.44 (OR = 1.44, 95% CI: 1.34, 1.54) fold increase in odds of giving preterm births among women who were born preterm. Additionally, having a sibling born preterm (OR = 1.53, 95% CI: 1.24, 1.87) and having a partner born preterm (OR = 1.12, 95% CI: 1.01, 1.25) were associated with increased likelihood of giving preterm births among women. The study revealed that women with a family history of preterm birth face an increased risk of giving preterm births. Screening pregnant women for a family history of preterm birth is essential, with those having a positive family history requiring closer follow-up.

Case report: segmental form of Hailey-Hailey disease

The article presents a clinical case of a rare segmental form of familial benign chronic pemphigus with a positive family history. Patient S., born in 2014, complained of unilateral eruptions in the area of the left retroauricular fold, left axilla, inguinal fold and labia majora on the left, plantar surface of the left foot. Eruptions were represented by erythematous foci, single blisters with serous contents, erosions, crusts. For the entire period, the patient was observed with the following diagnoses: microbial eczema, Sneddon-Wilkinson Disease, Inflammatory Linear Verrucose Epidermal Nevus. Due to the long-term relapsing course and ineffective therapy, additional examination methods were carried out – histological and genetic studies. Only after genetic testing, in which a heterozygous mutation of the ATP2C1 gene was revealed, and geneticist’s consultation, the final diagnosis was established – Hailey-Hailey Disease.It is known, that the segmental form is formed as a result of mosaicism, which can be of two types. The term "mosaicism" refers to the presence in an organism of two or more genetically heterogeneous cell populations formed from a genetically homogeneous zygote. The formation of type 1 mosaicism is based on a de novo postzygotic mutation at an early stage of embryogenesis. In turn, type 2 mosaicism develops as a result of a postzygotic mutation against the background of an already existing prezygotic mutation. Determining the type of mosaicism by genetic testing will make it possible to assess the prognosis of the disease and the chance of transmitting this disease to offspring.

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Fabry disease (FD) is a rare X-linked lysosomal disorder caused by alpha-galactosidase deficiency consecutive to a pathogenic variant in the GLA gene. Age at onset is highly variable, with a wide clinical spectrum including frequent renal, cardiac, skin and nervous system manifestations. Since pain can be an indicator of underlying FD, we wanted to estimate the prevalence of FD in a population of chronic pain patients. Two studies, DOUFAB and DOUFABIS, were carried out in expert centers for chronic pain to assess the prevalence of FD by measuring alpha galactosidase A activity in men and analysing the GLA gene in women. Analysis of 893 patients, essentially adults, led to the diagnosis of FD in one female patient, now treated with enzyme replacement therapy. The prevalence of FD is estimated about 1/1000 in our population of men and women suffering from various chronic pain. This is nearly the prevalence of FD observed in other previously screened high-risk populations with renal failure. Although a systematic search for FD does not seem relevant in the context of unexplained chronic pain in adults, a positive family history of FD or the presence of additional FD related organ features must lead to consider this rare disease diagnosis. Therefore, pain specialists need to be aware of main features of FD, including pain characteristics.

Prevalence of Depression and Its Associated Factors among Adult Libyan Diabetic Patients Attending Golden Polyclinic, Al-Badri, Tripoli

Background and aims: Depression is a significant public health concern and a common comorbid condition among patients with diabetes mellitus. This study aims to assess the prevalence of depression and its associated factors among patients with diabetes in the Al-Badri polyclinic. Methods: A descriptive cross-sectional study was conducted at Al-Badri Polyclinic from February to April 2024. The presence of depression among diabetes patients was assessed using the 9-item Patient Health Questionnaire (PHQ-9) scale. Data was entered and analyzed by using SPSS software version 26. Results: A total of two hundred and forty-seven participants were enrolled in the study, with 142 (57.5%) being female and 168 (68.0%) aged between 41 and 60 years. The majority of participants (71.7%) were married, and 40.5% were employed. Additionally, 78% had a positive family history of diabetes mellitus. Among the participants, 43.3% were smokers. The duration of diabetes mellitus was more than 10 years for 52.2% of the patients. Approximately two-thirds of the patients (61.5%) were taking tablets for the treatment of DM. The majoring of the patients (98.8%) had an HbA1c level of 6.5 or higher. Approximately one-third of the patients had hypertension as a comorbidity with DM, and 12.1% had heart disease as a complication of diabetes. The overall prevalence of moderate depression among the diabetes patients at the clinic was 24.7%. The majority (70.4%) exhibited mild depression, and 4.9% experienced minimal depression. No cases of severe depression were identified. Factors independently associated with depression included being on age, marital status, insulin therapy, and comorbidities. Conclusion: Depression was prevalent in our diabetic patients. Factors independently associated with this included being on age, marital status, insulin therapy, and comorbidities. The study emphasizes and recommends the importance of identifying and managing depression among diabetes patients. It is also recommended to increase awareness of the benefits of early diagnosis of patients to prevent major forms of depression and cost saving for the health system. Programs for screening depression should be implemented in primary care settings.

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Alport syndrome (AS) is a hereditary glomerulopathy due to pathogenic variants in COL4A3, COL4A4, and COL4A5. Treatment with Renin-Angiotensin-Aldosterone System (RAAS) inhibitors can delay progression to end stage renal disease (ESRD). From 2018 until today, we performed Whole Exome Sequencing (WES) in 19 patients with AS phenotype with or without positive family history. Fourteen of these patients were children. Genetic testing was extended to family members at risk. All patients received a genetic diagnosis of AS: five X-linked AS (XLAS) males, five X-linked AS (XLAS) females, six autosomal dominant AS (ADAS), and one autosomal recessive AS (ARAS). After cascade screening four XLAS males and eight XLAS females, six ADAS and three ARAS heterozygotes were added to our initial results. Fifteen patients were eligible to start treatment with RAAS inhibitors after their diagnosis. All XLAS female patients, ARAS heterozygotes, and ADAS have been advised to be followed up, so that therapeutic intervention can begin in the presence of microalbuminuria. Genetic diagnosis of AS ensures early therapeutic intervention and appropriate follow up to delay progression to chronic kidney disease, especially in thet pediatric population.

Progressive conjunctival invasion of cornea in a child with Warburg-Cinotti Syndrome: a case report

BackgroundWarburg-Cinotti syndrome is a rare syndrome caused by de novo or inherited variants in discoding domain receptor tyrosine kinase 2 (DDR2). Only six cases have been reported worldwide and our knowledge of this disease remained sparse especially from an ophthalmological perspective, since previous literature mostly focused on systemic malformations or genetics.Case presentationA seven-year-old boy developed a gelatinous vascularized conjunctiva-like mass secondary to trauma. The mass enlarged and gradually invaded the cornea. With each surgical intervention, the mass recurred and grew even larger rapidly. The patient ended up with the mass covering the entire cornea along with symblepharon formation. Whole exome sequencing revealed a hemizygous variant in the DDR2 gene, which is consistent with Warburg-Cinotti syndrome.ConclusionsConsidering Warburg-Cinotti syndrome, we should be vigilant of patients exhibiting progressive conjunctival invasion of the cornea, even those without systemic manifestations or a positive family history.

OCD in children: phenomenology, impairment, and psychiatric co-morbidity—an experience from Kashmir

IntroductionObsessions are recurrent ego-dystonic thoughts, images, or urges followed by compulsion to reduce them. The phenomenology of obsessive–compulsive disorder (OCD) along with comorbidities is essential for understanding treatment response. This study aimed to assess phenomenology, impairment, and psychiatric co-morbidity associated with OCD in children and adolescents.MethodologyA cross-sectional study was done among 36 patients suffering from OCD. Socio-demographic and clinical details were collected with the application of Children’s Yale-Brown Obsessive Compulsive Scale for severity of illness, Children’s Global Assessment Scale for impairment assessment, and Kiddie-Sads-Present and Lifetime Version for comorbidity.ResultThirty-six patients, comprising 20 male and 16 female subjects, with a mean age ± SD of 11 ± 3.4 years and a mean duration of illness of 12.30 months, were included in the study. A positive family history was noted in 30.6% of subjects. Mean C-YBOCS score was 24.44 (moderate to severe OCD) and the mean C-GAS score was 47.86, with 55.6% of subjects suffering from other comorbidities. Fear of contamination with washing and cleaning was among the most common themes in the population. Data was analyzed and presented as mean ± SD, frequencies, and percentages.ConclusionConsidering the increased prevalence of OCD in children and adolescent populations, a thorough symptom evaluation and any co-morbidities related to OCD should be considered by clinicians.

A comprehensive study of adverse effects of chemotherapy on female breast cancer patients in NORI Cancer Hospital, Islamabad in a developing country.

Breast cancer is one of the top three malignancies worldwide. While radiotherapy, hormone replacement therapys, and chemotherapy are treatments, chemotherapy causes adverse effects that hinder daily life activities. To assess the prevalence, severity, and association of symptomatic toxicities in female breast cancer patients affecting various organ systems post systemic chemotherapy (adjuvant and neoadjuvant), and their impact on daily activities. Additionally, to determine the severity of adverse effects in specific age groups and their association with family history and disease stage. An observational study was conducted on 253 female breast cancer patients receiving chemotherapy at NORI Cancer Hospital from May to October 2023. Data collection tools included the NCI-PRO-CTCAE standardized questionnaire and patient medical records. Analysis was performed using descriptive statistics, T-tests, and Chi-square tests. Among the 253 patients, 41.4% were aged 41-50. Significant weight changes (p = 0.034) were observed with more than three chemotherapy cycles. Notable associations included increased chemotherapy cycles with gastrointestinal (mouth/throat sores p = 0.031, vomiting p = 0.021), respiratory (cough p = 0.04), cardiovascular (arm/leg swelling p = 0.007, palpitations p = 0.052), integumentary (hair loss p = 0.000, skin dryness p = 0.054), and musculoskeletal (fatigue p = 0.002) adverse effects. Positive family history and the 18-30 age group also showed significant associations with adverse effect severity. Disease stage significantly influenced the nervous system (stage 2 p = 0.007, stage 3 p = 0.01). The severity of adverse effects varies among age groups, depending on disease stage, genetics, and treatment duration. These patient-reported outcomes highlight the need for better management strategies considering prognostic factors and treatment adverse effects.