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1.
Mol Psychiatry ; 2024 May 06.
Article in English | MEDLINE | ID: mdl-38710907

ABSTRACT

Effective prevention of severe mental disorders (SMD), including non-psychotic unipolar mood disorders (UMD), non-psychotic bipolar mood disorders (BMD), and psychotic disorders (PSY), rely on accurate knowledge of the duration, first presentation, time course and transdiagnosticity of their prodromal stages. Here we present a retrospective, real-world, cohort study using electronic health records, adhering to RECORD guidelines. Natural language processing algorithms were used to extract monthly occurrences of 65 prodromal features (symptoms and substance use), grouped into eight prodromal clusters. The duration, first presentation, and transdiagnosticity of the prodrome were compared between SMD groups with one-way ANOVA, Cohen's f and d. The time course (mean occurrences) of prodromal clusters was compared between SMD groups with linear mixed-effects models. 26,975 individuals diagnosed with ICD-10 SMD were followed up for up to 12 years (UMD = 13,422; BMD = 2506; PSY = 11,047; median[IQR] age 39.8[23.7] years; 55% female; 52% white). The duration of the UMD prodrome (18[36] months) was shorter than BMD (26[35], d = 0.21) and PSY (24[38], d = 0.18). Most individuals presented with multiple first prodromal clusters, with the most common being non-specific ('other'; 88% UMD, 85% BMD, 78% PSY). The only first prodromal cluster that showed a medium-sized difference between the three SMD groups was positive symptoms (f = 0.30). Time course analysis showed an increase in prodromal cluster occurrences approaching SMD onset. Feature occurrence across the prodromal period showed small/negligible differences between SMD groups, suggesting that most features are transdiagnostic, except for positive symptoms (e.g. paranoia, f = 0.40). Taken together, our findings show minimal differences in the duration and first presentation of the SMD prodromes as recorded in secondary mental health care. All the prodromal clusters intensified as individuals approached SMD onset, and all the prodromal features other than positive symptoms are transdiagnostic. These results support proposals to develop transdiagnostic preventive services for affective and psychotic disorders detected in secondary mental healthcare.

2.
Br J Psychiatry ; 222(1): 27-36, 2023 01.
Article in English | MEDLINE | ID: mdl-36281471

ABSTRACT

BACKGROUND: Studies show ethnic inequalities in rates of involuntary admission and types of clinical care (such as psychological therapies). However, few studies have investigated if there is a relationship between clinical care practices and ethnic inequalities in involuntary admission. AIMS: This study investigated the impact of ethnicity and clinical care on involuntary admission and the potential mediation effects of prior clinical care. METHOD: In this retrospective cohort study, we used data from the electronic records of the South London and Maudsley NHS Foundation Trust and identified patients with a first hospital admission between January 2008 and May 2021. Logistic regression and mediation analyses were used to investigate the association between ethnicity and involuntary admission, and whether clinical care, in the 12 months preceding admission, mediates the association. RESULTS: Compared with White British people, higher odds of involuntary admission were observed among 10 of 14 minority ethnic groups; with more than twice the odds observed among people of Asian Chinese, of Asian Bangladeshi and of any Black background. There were some ethnic differences in clinical care prior to admission, but these had a minimal impact on the inequalities in involuntary admission. More out-patient appointments and home treatment were associated with higher odds of involuntary admission, whereas psychological therapies and having a care plan were associated with reduced odds of involuntary admission. CONCLUSIONS: Ethnic inequalities in involuntary admission persist after accounting for potential mediating effects of several types and frequencies of clinical care. Promoting access to psychological therapies and ensuring that care plans are in place may reduce involuntary admissions.


Subject(s)
Ethnicity , Mental Health , Humans , Retrospective Studies , Ethnicity/psychology , White People , Minority Groups
3.
Psychol Med ; 53(3): 887-896, 2023 02.
Article in English | MEDLINE | ID: mdl-37132645

ABSTRACT

BACKGROUND: People with serious mental illness (SMI) have a significantly shorter life expectancy than the general population. This study investigates whether the mortality rate in this group has changed over the last decade. METHODS: Using Clinical Record Interactive Search software, we extracted data from a large electronic database of patients in South East London. All patients with schizophrenia, schizoaffective disorder or bipolar disorder from 2008 to 2012 and/or 2013 to 2017 were included. Estimates of life expectancy at birth, standardised mortality ratios and causes of death were obtained for each cohort according to diagnosis and gender. Comparisons were made between cohorts and with the general population using data obtained from the UK Office of National Statistics. RESULTS: In total, 26 005 patients were included. In men, life expectancy was greater in 2013-2017 (64.9 years; 95% CI 63.6-66.3) than in 2008-2012 (63.2 years; 95% CI 61.5-64.9). Similarly, in women, life expectancy was greater in 2013-2017 (69.1 years; 95% CI 67.5-70.7) than in 2008-2012 (68.1 years; 95% CI 66.2-69.9). The difference with general population life expectancy fell by 0.9 years between cohorts in men, and 0.5 years in women. In the 2013-2017 cohorts, cancer accounted for a similar proportion of deaths as cardiovascular disease. CONCLUSIONS: Relative to the general population, life expectancy for people with SMI is still much worse, though it appears to be improving. The increased cancer-related mortality suggests that physical health monitoring should consider including cancer as well.


Subject(s)
Bipolar Disorder , Neoplasms , Male , Infant, Newborn , Humans , Female , Cause of Death , London/epidemiology , Life Expectancy , Neoplasms/epidemiology , Mortality
4.
Psychol Med ; 53(6): 2492-2502, 2023 04.
Article in English | MEDLINE | ID: mdl-35135642

ABSTRACT

BACKGROUND: Catatonia, a severe neuropsychiatric syndrome, has few studies of sufficient scale to clarify its epidemiology or pathophysiology. We aimed to characterise demographic associations, peripheral inflammatory markers and outcome of catatonia. METHODS: Electronic healthcare records were searched for validated clinical diagnoses of catatonia. In a case-control study, demographics and inflammatory markers were compared in psychiatric inpatients with and without catatonia. In a cohort study, the two groups were compared in terms of their duration of admission and mortality. RESULTS: We identified 1456 patients with catatonia (of whom 25.1% had two or more episodes) and 24 956 psychiatric inpatients without catatonia. Incidence was 10.6 episodes of catatonia per 100 000 person-years. Patients with and without catatonia were similar in sex, younger and more likely to be of Black ethnicity. Serum iron was reduced in patients with catatonia [11.6 v. 14.2 µmol/L, odds ratio (OR) 0.65 (95% confidence interval (CI) 0.45-0.95), p = 0.03] and creatine kinase was raised [2545 v. 459 IU/L, OR 1.53 (95% CI 1.29-1.81), p < 0.001], but there was no difference in C-reactive protein or white cell count. N-Methyl-d-aspartate receptor antibodies were significantly associated with catatonia, but there were small numbers of positive results. Duration of hospitalisation was greater in the catatonia group (median: 43 v. 25 days), but there was no difference in mortality after adjustment. CONCLUSIONS: In the largest clinical study of catatonia, we found catatonia occurred in approximately 1 per 10 000 person-years. Evidence for a proinflammatory state was mixed. Catatonia was associated with prolonged inpatient admission but not with increased mortality.


Subject(s)
Catatonia , Humans , Catatonia/epidemiology , Catatonia/etiology , Cohort Studies , Case-Control Studies , Autoantibodies , Demography
5.
J Hum Genet ; 67(1): 43-49, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34321610

ABSTRACT

Syndactyly is the most common limb defect depicting the bony and/or cutaneous fusion of digits. Syndactyly can be of various types depending on the digits involved in the fusion. To date, eight syndactyly-associated genes have been reported, of which HOXD13 and GJA1 have been explored in a few syndactyly but most of them have unknown underlying genetics. In the present study HOXD13, GJA1 and TP63 genes have been screened by resequencing in 24 unrelated sporadic cases with various syndactyly. The screening revealed two pathogenic HOXD13 variants, NM_000523:c.500 A > G [p.(Y167C)], and NM_000523:c.961 A > C [p.(T321P)] in syndactyly type 1b and type 1c, respectively. This is the first report to identify HOXD13 pathogenic variant in syndactyly type 1b and third report in syndactyly type 1c pathogenesis. Furthermore, this study also reports a TP63 pathogenic variant, NM_003722:c.953 G > A [p.(R318H)] in Ectrodactyly and Cleft lip and palate (ECLP). In conclusion, the current study expands the clinical spectrum of HOXD13 and TP63-related disorders.


Subject(s)
Genetic Predisposition to Disease , Homeodomain Proteins/genetics , Mutation , Phenotype , Syndactyly/diagnosis , Syndactyly/genetics , Transcription Factors/genetics , Tumor Suppressor Proteins/genetics , Alleles , Genetic Association Studies , Genotype , Humans
6.
Soc Psychiatry Psychiatr Epidemiol ; 57(7): 1341-1355, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35246709

ABSTRACT

PURPOSE: Clozapine is the most effective intervention for treatment-resistant schizophrenia (TRS). Several studies report ethnic disparities in clozapine treatment. However, few studies restrict analyses to TRS cohorts alone or address confounding by benign ethnic neutropenia. This study investigates ethnic equity in access to clozapine treatment for people with treatment-resistant schizophrenia spectrum disorder. METHODS: A retrospective cohort study, using information from 11 years of clinical records (2007-2017) from the South London and Maudsley NHS Trust. We identified a cohort of service-users with TRS using a validated algorithm. We investigated associations between ethnicity and clozapine treatment, adjusting for sociodemographic factors, psychiatric multi-morbidity, substance misuse, neutropenia, and service-use. RESULTS: Among 2239 cases of TRS, Black service-users were less likely to be receive clozapine compared with White British service-users after adjusting for confounders (Black African aOR = 0.49, 95% CI [0.33, 0.74], p = 0.001; Black Caribbean aOR = 0.64, 95% CI [0.43, 0.93], p = 0.019; Black British aOR = 0.61, 95% CI [0.41, 0.91], p = 0.016). It was additionally observed that neutropenia was not related to treatment with clozapine. Also, a detention under the Mental Health Act was negatively associated clozapine receipt, suggesting people with TRS who were detained are less likely to be treated with clozapine. CONCLUSION: Black service-users with TRS were less likely to receive clozapine than White British service-users. Considering the protective effect of treatment with clozapine, these inequities may place Black service-users at higher risk for hospital admissions and mortality.


Subject(s)
Clozapine , Schizophrenia , Clozapine/therapeutic use , Cohort Studies , Electronics , Ethnicity , Humans , Retrospective Studies , Schizophrenia/drug therapy , Schizophrenia, Treatment-Resistant
7.
Am J Med Genet A ; 185(1): 97-104, 2021 01.
Article in English | MEDLINE | ID: mdl-33058447

ABSTRACT

Polydactyly is a limb malformation and can occur as nonsyndromic polydactyly, syndromic polydactyly, or along with other limb defects. A few genes have been identified that cause various forms of syndromic and nonsyndromic polydactyly, of which GLI3 has been extensively explored. In the present study, GLI3 gene was screened by direct resequencing in 15 polydactyly cases with or without other anomalies. GLI3 screening revealed two novel pathogenic variants, NM_000168.6:c.3414delC [p.(H1138Qfs*68)] and NM_000168.6:c.1862C>T [p.(P621L)], found in two unrelated cases of familial complex pre- and postaxial polysyndactyly and sporadic Greig cephalopolysyndactyly syndrome (GCPS), respectively. The first pathogenic GLI3 variant, NM_000168.6:c.3414delC, causes premature protein truncation at the C-terminal domain of GLI3. Alternatively, the second pathogenic variant, NM_000168.6:c.1862C>T, lies in the DNA binding domain of GLI3 protein and may affect its hydrophobic interaction with DNA. Both pathogenic GLI3 variants had reduced transcriptional activity in HEK293 cells that likely had led to haploinsufficiency and, consequently, the clinical phenotypes. Overall, the present study reports a novel familial case of complex pre- and postaxial polysyndactyly and the underlying novel pathogenic GLI3 variant expanding the clinical criteria for GLI3 mutational spectrum to complex pre- and postaxial polysyndactyly. Furthermore, this study also reports a novel GLI3 pathogenic variant linked to GCPS, highlighting the known genotype-phenotype correlation.


Subject(s)
Acrocephalosyndactylia/genetics , Genetic Predisposition to Disease , Nerve Tissue Proteins/genetics , Syndactyly/genetics , Zinc Finger Protein Gli3/genetics , Acrocephalosyndactylia/diagnosis , Acrocephalosyndactylia/pathology , Adolescent , Child , Female , Genetic Association Studies , Humans , Male , Mutation/genetics , Phenotype , Polymorphism, Single Nucleotide , Syndactyly/diagnosis , Syndactyly/pathology , Young Adult
8.
Indian J Plast Surg ; 54(3): 370-372, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34667527

ABSTRACT

Apert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 ( FGFR2 ) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger's method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

9.
Br J Psychiatry ; 211(4): 194-197, 2017 Oct.
Article in English | MEDLINE | ID: mdl-28882826

ABSTRACT

People with serious mental illness have a reduced life expectancy that is partly attributable to increased cardiovascular disease. One approach to address this is regular physical health monitoring. However, physical health monitoring is poorly implemented in everyday clinical practice and there is little evidence to suggest that it improves physical health. We argue that greater emphasis should be placed on primary prevention strategies such as assertive smoking cessation, dietary and exercise interventions and more judicious psychotropic prescribing.


Subject(s)
Life Expectancy , Mental Disorders/mortality , Primary Prevention , Guidelines as Topic , Health Status , Humans
10.
Ann Pharmacother ; 51(8): 675-681, 2017 Aug.
Article in English | MEDLINE | ID: mdl-28351167

ABSTRACT

OBJECTIVE: To review the efficacy and safety of talimogene laherparepvec (T-VEC) as well as its pharmacology, pharmacokinetics, drug-drug interactions, handling procedures, cost considerations, and place in therapy. DATA SOURCES: Searches of PubMed (1966 to February 2017) and Cochrane Library (1999 to February 2017) were conducted using the terms talimogene laherparepvec, T-VEC, OncoVEX, immunotherapy, melanoma, and oncolytic virus. Additional information was determined from bibliographies, manufacturer product labeling and website, meeting abstracts, Food and Drug Administration website, and clinicaltrials.gov. STUDY SELECTION AND DATA EXTRACTION: A total of 79 English-language publications were identified. Articles that assessed T-VEC's pharmacokinetics, pharmacodynamics, mechanism, dosing, safety, and efficacy were included as well as narrative reviews that provided practical information. DATA SYNTHESIS: Clinical trials have confirmed the safety and efficacy of T-VEC as monotherapy for the treatment of advanced melanoma, with an overall response rate (ORR) of 26%. Relative to granulocyte-macrophage colony-stimulating factor, T-VEC significantly increased durable response rate (DRR; 16.3% vs 2.1%, P < 0.001); however, median overall survival was not improved (23.3 vs 18.9 months, P = 0.051). Phase 1b trials have combined T-VEC and immunotherapies with promising results. T-VEC's adverse effects are generally considered mild to moderate in severity. CONCLUSION: T-VEC is the first approved oncolytic virus for local treatment of unresectable cutaneous, subcutaneous, and nodal lesions in melanoma recurrent after initial surgery. T-VEC improves ORR and DRR as a single agent, shows promise in combination therapy, and is well tolerated. Ongoing trials will determine if T-VEC has a role in early treatment or in combination therapy for melanoma or other malignancies.


Subject(s)
Immunotherapy/methods , Melanoma/therapy , Oncolytic Virotherapy/methods , Oncolytic Viruses , Administration, Cutaneous , Clinical Trials as Topic , Combined Modality Therapy , Disease-Free Survival , Drug Interactions , Drug-Related Side Effects and Adverse Reactions/etiology , Humans , Melanoma/pathology , Melanoma/virology , Oncolytic Viruses/genetics
11.
Ren Fail ; 39(1): 294-298, 2017 Nov.
Article in English | MEDLINE | ID: mdl-28085530

ABSTRACT

BACKGROUND: Timely diagnosis of invasive fungal infections (IFI) in renal transplant (RT) patients on immunosuppression is often difficult, jeopardizing their life and graft. We reported IFI and their causative fungal agents in post-RT patients. MATERIALS AND METHODS: This was a retrospective 6-year clinical study carried out from 2010 to 2015 on 1900 RT patients. Clinical data included patient-donor demographics, time to onset of infection, risk factors and graft function in terms of serum creatinine (SCr). To identify IFI, we examined bronchoalveolar lavage (BAL), blood, tissue, and wound swab samples by conventional mycological methods. RESULTS: IFI were diagnosed in 30 (1.56%) patients on triple immunosuppression, mainly males (n = 25) with mean age of 36.57 ± 11.9 years at 13.12 ± 18.35 months post-RT. Aspergillus species was identified in 11 BAL, one tissue, and one wound specimen each, 30.76% of these were fatal and 15.38% caused graft loss; Candida albicans was in nine BAL, four blood, two wound swab, and one tissue specimens, 25% of these were fatal and 25% had graft loss and one mucor in BAL which was fatal. Seven patients were diabetic, 10 had superadded cytomegalovirus infection, and 15 were anti-rejected. CONCLUSION: IFI are associated with increased morbidity and mortality in RT patients. Triple immunosuppression, broad spectrum antibiotics for ≥ two weeks, diabetes and superadded infection are added risks for these patients. Prevention, early diagnosis, and appropriate management are necessary to improve their prognosis.


Subject(s)
Amphotericin B/administration & dosage , Immunosuppression Therapy , Invasive Fungal Infections , Kidney Transplantation , Postoperative Complications , Transplants/microbiology , Adult , Antifungal Agents/administration & dosage , Aspergillus/isolation & purification , Candida albicans/isolation & purification , Female , Graft Survival , Humans , Immunosuppression Therapy/adverse effects , Immunosuppression Therapy/methods , India/epidemiology , Invasive Fungal Infections/diagnosis , Invasive Fungal Infections/drug therapy , Invasive Fungal Infections/etiology , Kidney Failure, Chronic/surgery , Kidney Transplantation/adverse effects , Kidney Transplantation/methods , Kidney Transplantation/mortality , Male , Middle Aged , Outcome Assessment, Health Care , Postoperative Complications/diagnosis , Postoperative Complications/drug therapy , Postoperative Complications/microbiology , Retrospective Studies
12.
Lancet ; 385 Suppl 1: S79, 2015 Feb 26.
Article in English | MEDLINE | ID: mdl-26312901

ABSTRACT

BACKGROUND: Cannabis is frequently used among individuals with first episode psychosis and is associated with poor clinical outcomes. However, little is known about the effect of cannabis use on the response to antipsychotic medications and how use could affect outcomes. Using natural language processing on clinical data from a large electronic case register, we sought to investigate whether resistance to antipsychotic treatment mediated poor clinical outcomes associated with cannabis use. METHODS: Data were obtained from 2026 people with first episode psychosis in south London, UK. Cannabis use documented in free text clinical records was identified with natural language processing. Data for age, sex, ethnicity, marital status, psychotic disorder diagnosis, subsequent hospital admission, and number of unique antipsychotic medications prescribed were obtained using the Clinical Record Interactive Search instrument. The association of these variables with cannabis use was analysed with multivariable regression and mediation analysis. FINDINGS: 939 people (46·3%) with first episode psychosis were using cannabis at first presentation. Cannabis use was most strongly associated with being 16-25 years old, male, and single, and was also associated with an increase in number of hospital admissions (incidence rate ratio 1·50, 95% CI 1·25-1·80), compulsory hospital admission (odds ratio 1·55, 1·16-2·08), and number of days spent in hospital (ß coefficient 35·1 days, 12·1-58·1) over 5 years' follow-up. An increase in number of unique antipsychotic medications mediated an increase in number of hospital admissions (natural indirect effect 1·11, 1·04-1·17; total effect 1·41, 1·22-1·64), compulsory hospital admission (1·27, 1·10-1·45; 1·71, 1·05-2·78), and number of days spent in hospital (16·1, 6·7-25·5; 19·9, 2·5-37·3). INTERPRETATION: We showed that a substantial number of people with first episode psychosis used cannabis and that its use was associated with increased likelihood of hospital admission and number of days spent in hospital. These associations were partly mediated by an increase in number of unique antipsychotic medications prescribed. These findings suggest that cannabis might reduce response to conventional antipsychotic treatment and highlight the importance of strategies to reduce its use. FUNDING: National Institute for Health Research, UK Medical Research Council.

13.
Br J Psychiatry ; 209(1): 29-34, 2016 07.
Article in English | MEDLINE | ID: mdl-27103681

ABSTRACT

BACKGROUND: Studies indicate that risk of mortality is higher for patients admitted to acute hospitals at the weekend. However, less is known about clinical outcomes among patients admitted to psychiatric hospitals. AIMS: To investigate whether weekend admission to a psychiatric hospital is associated with worse clinical outcomes. METHOD: Data were obtained from 45 264 consecutive psychiatric hospital admissions. The association of weekend admission with in-patient mortality, duration of hospital admission and risk of readmission was investigated using multivariable regression analyses. Secondary analyses were performed to investigate the distribution of admissions, discharges, in-patient mortality, episodes of seclusion and violent incidents on different days of the week. RESULTS: There were 7303 weekend admissions (16.1%). Patients who were aged between 26 and 35 years, female or from a minority ethnic group were more likely to be admitted at the weekend. Patients admitted at the weekend were more likely to present via acute hospital services, other psychiatric hospitals and the criminal justice system than to be admitted directly from their own home. Weekend admission was associated with a shorter duration of admission (B coefficient -21.1 days, 95% CI -24.6 to -17.6, P<0.001) and an increased risk of readmission in the 12 months following index admission (incidence rate ratio 1.13, 95% CI 1.08 to 1.18, P<0.001), but in-patient mortality (odds ratio (OR) = 0.79, 95% CI 0.51 to 1.23, P = 0.30) was not greater than for weekday admission. Fewer episodes of seclusion occurred at the weekend but there was no significant variation in deaths during hospital admission or violent incidents on different days of the week. CONCLUSIONS: Being admitted at the weekend was not associated with an increased risk of in-patient mortality. However, patients admitted at the weekend had shorter admissions and were more likely to be readmitted, suggesting that they may represent a different clinical population to those admitted during the week. This is an important consideration if mental healthcare services are to be implemented across a 7-day week.


Subject(s)
Hospital Mortality , Hospitals, Psychiatric/statistics & numerical data , Patient Admission/statistics & numerical data , Registries/statistics & numerical data , Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , London , Male , Middle Aged , Time Factors , Young Adult
14.
J Assoc Physicians India ; 63(9): 80-1, 2015 Sep.
Article in English | MEDLINE | ID: mdl-27608876

ABSTRACT

Adrenal ganglioneuromas in young adults are rare and ill-understood. We report an incidentally detected adrenal gland tumor diagnosed as ganglioneuroma (mature type) in 33 years old man who presented with vomiting and epigastric pain for 2 months. Histopathology examination revealed a well-encapsulated benign tumor of mature ganglion cells and Schwann-like cells arranged in fascicles, staining strongly with NSE and s-100 proteins, with adjacent unremarkable adrenal cortex and medulla.

15.
Reprod Biomed Online ; 29(1): 80-7, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24813755

ABSTRACT

Thrombophilia and impaired placental vasculature are a major cause of adverse pregnancy outcome. In 2007, a new hereditary factor for obstetric complications and recurrent pregnancy loss (RPL) was identified as a sequence variation in the core promoter of the annexin A5 gene, ANXA5, called the M2 haplotype. M2 carriership has been demonstrated in couples with recurrent miscarriage and its origin is embryonic rather than specifically maternal, confirmed by subsequent papers. The M2 haplotype is the first report of a hereditary factor related to pregnancy pathology caused by embryonic-induced anticoagulation. It has been demonstrated that couples with RPL had equal and significantly increased M2 carriership and that maternal and paternal carriership confers equal risk. Given its importance for patients with RPL, and potentially implantation failure, this study assessed the incidence of carrier status for the M2 ANXA5 haplotype in both the male and female of couples attending five CARE IVF centres. In 314 patients (157 couples), 44% of couples (one or both partners), 24% of females, 26% of males and 37% of couples with unexplained infertility were M2 carriers. This high incidence has provoked further urgent studies on specific patient populations and on the value of post embryo-transfer therapy.


Subject(s)
Abortion, Habitual/genetics , Annexin A5/genetics , Heterozygote , Abortion, Habitual/epidemiology , Adult , Female , Fertilization in Vitro , Genetic Carrier Screening , Haplotypes , Humans , Male , Middle Aged , Promoter Regions, Genetic , Thrombophilia/epidemiology , Thrombophilia/genetics
16.
BMJ Open ; 14(7): e084613, 2024 Jul 31.
Article in English | MEDLINE | ID: mdl-39089713

ABSTRACT

OBJECTIVES: Negative symptoms in schizophrenia are associated with significant illness burden. We sought to investigate clinical outcomes for patients with schizophrenia who present with predominant negative symptoms (PNS) vs without PNS. DESIGN: Retrospective analysis of electronic health record (EHR) data. SETTING: 25 US providers of mental healthcare. PARTICIPANTS: 4444 adults with schizophrenia receiving care between 1999 and 2020. EXPOSURE: PNS defined as ≥3 negative symptoms and ≤3 positive symptoms recorded in EHR data at the time of the first recorded schizophrenia diagnosis (index date). Symptom data were ascertained using natural language processing applied to semistructured free text records documenting the mental state examination. A matched sample (1:1) of patients without PNS was used to compare outcomes. Follow-up data were obtained up to 12 months following the index date. PRIMARY OUTCOME MEASURE: Mean number of psychiatric hospital admissions. SECONDARY OUTCOME MEASURES: Mean number of outpatient visits, estimated treatment costs, Clinical Global Impression - Severity score and antipsychotic treatments (12 months before and after index date). RESULTS: 360 (8%) patients had PNS and 4084 (92%) did not have PNS. Patients with PNS were younger (36.4 vs 39.7 years, p<0.001) with a greater prevalence of psychiatric comorbidities (schizoaffective disorders: 25.0 vs 18.4%, p=0.003; major depressive disorder: 17.8 vs 9.8%, p<0.001). During follow-up, patients with PNS had fewer days with an antipsychotic prescription (mean=111.8 vs 140.9 days, p<0.001). Compared with matched patients without PNS, patients with PNS were more likely to have a psychiatric inpatient hospitalisation (76.1% vs 59.7%, p<0.001) and had greater estimated inpatient costs ($16 893 vs $13 732, p=0.04). CONCLUSIONS: Patients with PNS were younger and presented with greater illness severity and more psychiatric comorbidities compared with patients without PNS. Our findings highlight an unmet need for novel therapeutic approaches to address negative symptoms to improve clinical outcomes.


Subject(s)
Antipsychotic Agents , Electronic Health Records , Schizophrenia , Humans , Schizophrenia/therapy , Schizophrenia/economics , Female , Male , Adult , Retrospective Studies , Middle Aged , Antipsychotic Agents/therapeutic use , Antipsychotic Agents/economics , Patient Acceptance of Health Care/statistics & numerical data , United States/epidemiology , Hospitalization/economics , Hospitalization/statistics & numerical data , Health Care Costs/statistics & numerical data
17.
J Family Med Prim Care ; 13(8): 3150-3155, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39228530

ABSTRACT

Introduction: Newborn care practices and beliefs vary word-wide, country to country and region to region. These care practices play a vital role in morbidity and mortality of newborn. A descriptive cross-sectional study was conducted to assess the newborn care practices and beliefs of newborn care. Methods: Data was collected from 429 post-natal mothers, who delivered in selected government hospitals of Santhal parganas, Deoghar, Jharkhand. Convenience sampling technique was used to collect the data from February 2023 to April 2023. Results: Findings of the study are, 86.9% mothers accepted that they massage the baby with oil before bath, 89.3% participants have given breastfeeding within one hour of delivery, 93.7% have given prelacteal feeds to the newborn. Applying Heeng (Asafoetida) over the umbilicus was found a common practice to cure the abdominal pain, 70.8% accepted that they apply ashes or powder or cow dung on the umbilical cord, and 88.3% rub the dough on baby's skin to remove excess hairs, 99.3% mothers had firm belief that hot and cold foods in their diet could harm the baby. In continuation 98.8% believed that tooth eruption is associated with diarrhoea, 95.6% are applying kajal in the eyes of new born. Majority 98.8% believed that baby's skin should be exposed to sunlight in case of jaundice and 94% avoid dressing of new born with yellow clothes. Conclusion: Continuous Health Education programs must be organized in Community to Educate the people about beneficial and harmful newborn care practices, which will help to reduce morbidity and mortality in newborn.

18.
Cureus ; 16(9): e69400, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39403645

ABSTRACT

BACKGROUND: Premenstrual dysphoric disorder (PMDD) is a severe form of premenstrual syndrome (PMS) that is predominantly characterized by mood symptoms, and debilitating physical and cognitive symptoms, which have a direct or indirect impact on work efficiency, social and personal relationships, and overall quality of life. This study was conducted to determine the prevalence of moderate to severe PMS and PMDD among young women in India and investigate sociodemographic and other associated factors. MATERIALS AND METHODS: We conducted a cross-sectional study that included 198 young women between 17 and 30 years of age who were medical students or nursing staff from a medical college in Eastern India. Data were collected regarding sociodemographic information, menstrual patterns, age of menarche, sexually active status, body mass index, and level of physical activity, which were analyzed to find correlations with moderate to severe PMS or PMDD. The Premenstrual Symptoms Screening Tool was used for diagnosing moderate to severe PMS or PMDD. The data were analyzed using Statistical Product and Service Solutions (SPSS, version 24.0; IBM SPSS Statistics for Windows, Armonk, NY) software. RESULTS: Forty-six (23.5%) respondents were diagnosed with moderate-to-severe PMS, of which four (2%) were diagnosed with PMDD. Among those diagnosed with moderate-to-severe PMS/PMDD, 39 (27.3%) were of the age group 17-24 years, and seven (13.2%) were of the age group 25-30 years, which was a statistically significant difference (p=0.05). Thirty-eight (30.6%) students were diagnosed with moderate-to-severe PMS, as compared to eight (11.1%) working professionals, which was also a statistically significant difference. CONCLUSION: Moderate-to-severe PMS significantly impacts quality of life. Considering its prevalence among young subjects, it is important to make young girls aware of the condition and educate them regarding various ways to manage their symptoms.

19.
Clin Lab ; 59(1-2): 65-9, 2013.
Article in English | MEDLINE | ID: mdl-23505908

ABSTRACT

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS), although rare, is the most common cause of acute renal failure (ARF) in children and has poor prognosis. We present a single centre experience of aHUS. METHODS: Thirty six children (29 males, 7 females), with mean age 7.9 years, presented with ARF, 2 children also had tonic-clonic type convulsions. Their hematology examination revealed hemolytic anemia with serum create-nine (SCr) of 5.54 mg/dL. Acute HUS was observed in 75%, acute-on-chronic HUS in 19.4%, and patchy cortical necrosis (PCN) in 5.6% biopsies. A mean of 5.4 plasma exchanges (PE) were carried out. Supportive management of anti-hypertensives and prednisone was also given. Recovery end points were establishment of urine output and improvement of SCr and hematological profile. RESULTS: Hematology and renal function profile improved variably in all children, 5.6% died, relapse was observed in 80.5% over a mean of 70 days; 13.9% children are doing well over a mean follow-up of 268.8 days. Thus, poor prognosis was observed in 86.1% children. Children with acute or chronic HUS and PCN did not recover. Six children who recovered had acute HUS. CONCLUSIONS: aHUS in Indian children occurs at an older age of around 8 years and chronic/irreversible changes on histopathology examination are harbingers of poor prognosis. PE is life-saving; however, further research for developing strategies to improve long-term survival is needed.


Subject(s)
Hematologic Tests , Hemolytic-Uremic Syndrome/diagnosis , Hemolytic-Uremic Syndrome/physiopathology , Child , Hemolytic-Uremic Syndrome/blood , Humans , Recurrence , Retrospective Studies
20.
Indian J Med Ethics ; VIII(3): 195-202, 2023.
Article in English | MEDLINE | ID: mdl-36880464

ABSTRACT

Carrying out fieldwork in private infertility clinics poses its own specific set of challenges. Gaining access to these field sites not only obliges researchers to negotiate with gatekeepers but also to deal with structures of hierarchy and power. Based on my preliminary fieldwork in Lucknow city of Uttar Pradesh, I discuss the challenges of conducting fieldwork in infertility clinics and how methodological challenges push the researcher to question the academically established notions of the "field", "fieldwork" and "research ethics". The paper stresses the importance of discussing the challenges of doing fieldwork in private health setups and is an attempt to answer vital questions about the nature of fieldwork, how the fieldwork was conducted, and the need to include questions and dilemmas that anthropologists might face in the process of making decisions in the field.


Subject(s)
Ethics, Research , Fertility Clinics , Humans
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