An Observational Study of Nutritional Assessment, Prescription, Practices, and Its Outcome among Critically Ill Patients Admitted to an Intensive Care Unit.

Aim and background: Optimal feeding strategy for critically ill patients of intensive care unit (ICU) is often a matter of debate as patients admitted to ICU are highly catabolic and reduction in muscle mass is very common. We aimed at early achievement of nutritional goals in preventing skeletal muscle breakdown and improving clinical outcomes among critically ill patients with high risk of malnutrition. Materials and methods: Nutrition risk in the critically ill (mNUTRIC) Score was used to identify the risk of malnutrition within 24 hours of admission. Quadriceps muscle mass index was measured within 24 hours of admission to ICU and repeated on 7th day. Enteral feeding was monitored by the nutrition expert as part of routine patient care and clinical outcomes were monitored. Results: A total of 287 patients admitted in ICU were screened for malnutrition and 60 (20.9%) of them had high score (>5). There was no statistically significant reduction in the quadriceps muscle mass index (p < 0.05) (t = 0.601) measured within 24 hours of admission and on the 7th day of ICU stay, signifying that the nutritional prescription and monitoring may be useful in preserving the muscle mass. This study did not find statistically significant association between the high mNUTRIC score on admission and the clinical outcomes, such as 28 days mortality, incidence of pressure ulcers, length of ICU stay, and hospital-acquired infection (p > 0.05). Conclusion: Early initiation and maintenance of enteral nutrition is essential for meeting target calories and protein requirements. It may help to preserve muscle mass in critically ill patients who are otherwise at high risk of malnutrition. How to cite this article: Sharon T, Nayak SG, Shanbhag V, Hebbar S. An Observational Study of Nutritional Assessment, Prescription, Practices, and Its Outcome among Critically Ill Patients Admitted to an Intensive Care Unit. Indian J Crit Care Med 2024;28(4):364-368.

Reconstruction Considerations Following Complete Excision of Mucoid-Degenerated Anterior Cruciate Ligament: A Retrospective Study.

INTRODUCTION: Mucoid degeneration (MD) of the anterior cruciate ligament (ACL) is an unusual cause of knee pain and restricted movement, predominantly affecting the middle-aged population. Arthroscopic partial or total debridement of the mucoid ACL is the surgical treatment of choice. However, little is discussed in the literature regarding subsequent knee instability and functional outcomes following complete ACL excision. METHODS: A retrospective study was conducted on patients who underwent arthroscopic total ACL excision for mucoid ACL. Pre- and post-operatively, the Tegner-Lysholm score, the International Knee Documentation Committee (IKDC) Subjective Knee Form, and subjective functional instability were used to grade the clinical outcomes. RESULTS: Ten out of the 13 patients who underwent complete ACL excision were available for evaluation. All patients presented with knee pain on deep flexion or extension with a painfully limited range of motion. Post-operatively, all patients were relieved of their original pain and dysfunction. The mean post-operative IKDC and Tegner-Lysholm scores were 74.96 and 83.6, respectively. All patients had a Lachman test positive, while only two had a grade 1 pivot shift test positive. Two patients had occasional functional instability only after strenuous exercises. None of the patients underwent subsequent ACL reconstruction. CONCLUSION: All patients reported improved functional outcomes. Only two out of 10 reported occasional instability during strenuous activity. Therefore, complete debridement of mucoid ACL in sedentary patients is safe and efficacious. However, active young patients may experience instability and require ACL reconstruction if it hinders their daily activities.

Effectiveness of Comprehensive Intervention Programme on Quality of life, fatigue, self-efficacy, and psychosocial distress among head and neck cancer patients receiving radiotherapy.

PURPOSE: The study aimed at evaluating the Effectiveness of Comprehensive Intervention Programme (CIP) on Quality of life (QOL), fatigue, self-efficacy, and psychosocial distress among Head and Neck Cancer (HNC) patients receiving radiotherapy treatment. METHODS: Single-centre non-RCT time series study was conducted among 134 HNC patients (67 observed, followed by 67 subjected to CIP). FACT- H&N, FACT-F, Cancer Behavior Inventory and psychosocial distress scales were used to assess QOL, fatigue, self-efficacy, and psychosocial distress respectively. CIP was provided to the intervention arm twice a week during the course of radiation therapy along with the standard care; the control arm received only standard care. Data were collected before commencing radiotherapy, and post-test assessments were carried out at the end of radiotherapy treatment, and at 3 and 6 months after completion of radiotherapy. RESULTS: Repeated measures ANOVA revealed a statistically significant improvement with CIP in QOL (F (1.917) = 454.103, p = 0.001), fatigue (F (2.106) = 183.775, p = 0.001), self-efficacy (F (2.429) = 190.861, p = 0.001), and psychosocial distress (F (2.288) = 290.105, p = 0.001) in the intervention arm. CONCLUSION: The CIP implemented to address multitude of issues in HNC patients receiving radiotherapy, proved to be effective in reducing the impact of treatment on QOL, fatigue, self-efficacy and psychosocial distress in HNC patients receiving radiotherapy.

Estimating the minimal clinically important difference of shoulder functional scores after arthroscopic rotator cuff repair: a prospective study.

INTRODUCTION: The minimal clinically important difference (MCID) is a valuable tool for patient-based outcome analysis, for which limited data is available in the literature, especially after arthroscopic rotator cuff repair (ARCR). Although several studies have reported MCID after ARCR, few have studied the impact of various clinical factors such as Diabetes, pseudoparalysis, type of cuff repair, and retear over MCID. This study attempts to determine the MCID in shoulder functional scores after ARCR and the impact of various factors on MCID. METHODS: 144 patients undergoing ARCR were prospectively evaluated at six and 12 months by ASES and UCLA scores. MCID for American Shoulder and Elbow Surgeons (ASES) and the University of California and Los Angeles (UCLA) scores were calculated using an anchor-based and distribution-based approach. MCID was also calculated for diabetic and non-diabetic patients, smokers vs. non-smokers, presence or absence of pseudoparalysis, type of cuff repair (single row vs. suture bridge), and presence of retears. Uni- and multivariate analysis was performed to identify factors affecting the MCID of both scores. RESULTS: Mean MCID for ASES score was 13.3 and 16.6 using an anchor-based and distribution-based approach, respectively. For the UCLA score, the mean MCID was 10.0 and 12.6 by anchor-based and 12.6 by distribution-based approach, respectively. Patients with higher pre-operative ASES scores demonstrated lower MCID values. No significant difference was observed in MCID scores of diabetic vs. non-diabetic patients, smoker vs. non-smoker, patients with or without pseudoparalysis, and type of cuff repair. The age, gender, and presence of retear did not affect MCID values. CONCLUSION: This study establishes the MCID values of ASES and UCLA scores for rotator cuff repair by anchor and distribution methods. No patient or surgical factors appear to affect the MCID except pre-operative ASES scores. STUDY DESIGN: Prospective cohort, Level II.

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic counseling. We herein present the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. Based on the electroclinical findings, epilepsy syndrome diagnosis could be made in 44% (63/142) of the families adopting the latest proposal for the classification by the ILAE task force (2022). Of these, 95% (60/63) of the families exhibited syndromes with developmental epileptic encephalopathy or progressive neurological deterioration. A definitive molecular diagnosis was achieved in 74 of 142 (52%) families. Infantile-onset epilepsy was noted in 81% of these families (61/74). Fifty-five monogenic, four chromosomal, and one imprinting disorder were identified in 74 families. The genetic variants included 65 (96%) single-nucleotide variants/small insertion-deletions, 1 (2%) copy-number variant, and 1 (2%) triplet-repeat expansion in 53 epilepsy-associated genes causing monogenic disorders. Of these, 35 (52%) variants were novel. Therapeutic implications were noted in 51% of families (38/74) with definitive diagnosis. Forty-one out of 66 families with monogenic disorders exhibited autosomal recessive and inherited autosomal dominant disorders with high risk of recurrence.

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience.

Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals for perinatal autopsy over the period of 15 years. A detailed phenotyping of the fetuses with trisomy 18 was executed by perinatal autopsy. Appropriate fetal tissues were obtained to perform genomic testing. We observed trisomy 18 in 16 fetuses (2%) in our cohort of 784 fetal/neonatal losses and a perinatal autopsy was performed on all of them. Abnormal facial profile was the most frequent anomaly (10/16, 62%) followed by anomalies of the extremities (9/16, 56%), and cardiac defects (6/16, 37%). We also observed esophageal atresia, diaphragmatic hernia, and neural tube defect. The study represents one of the largest cohorts of trisomy 18 from a perinatal center from a developing country and highlights the clinical heterogeneity attributed to trisomy 18. We also report a recurrence of trisomy 18 in a family.

Interventions to improve quality of life in patients with head and neck cancers receiving radiation therapy: a scoping review.

BACKGROUND: Quality of life (QOL) is impaired in patients with head and neck cancers (HNC) due to illness and treatment-associated morbidity. Although there is evidence from the studies on interventions' role in improving QOL receiving radiation therapy, these are not systematically synthesised. In this scoping review, we searched and synthesised the evidence on interventions to improve the QOL and its impact among patients with HNCs. METHODS: This scoping review was conducted using the framework proposed by Arksey and O'Malley, and the extensions suggested by Levac et al. were incorporated. Two reviewers independently searched four electronic databases using key thesaurus and free-text terms, and the data was extracted, tabulated, synthesised and reported as categories. RESULTS: Seventy-nine papers reported various interventions of diverse nature such as pharmacological, physical, nutritional, complementary and alternative therapies, psychosocial, oral care related, laser and photobiomodulation therapies, rehabilitative, educational, technology-based, surgical, device-related and nurse lead interventions. Most studies reported clinically meaningful impact of interventions on QOL, although the outcome differences were often statistically insignificant. Few studies reported a combination of interventions to address the multidimensional concerns faced by patients with HNCs. None of the studies examined the impact of interventions on QOL among long-term survivors of HNCs. CONCLUSION: As QOL concerns in patients with HNCs are multifaceted, more extensive studies with complex multi-component interventions and robust research designs are warranted.

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants. We also emphasize on the effectiveness of singleton exome sequencing as a valuable tool for diagnosing these disorders in resource limited settings. Overall, 46 distinct disorders were identified encompassing 46 genes with 51 single-nucleotide variants and/or indels and two copy-number variants. Pathogenic variants were identified in CREBBP, TSC2, KMT2D, MECP2, IDS, NIPBL, NSD1, RIT1, SOX10, BRWD3, FOXG1, BCL11A, KDM6B, KDM5C, SETD5, QRICH1, DCX, SMARCD1, ASXL1, ASXL3, AKT3, FBN2, TCF12, WASF1, BRAF, SMARCA4, SMARCA2, TUBG1, KMT2A, CTNNB1, DLG4, MEIS2, GATAD2B, FBXW7, ANKRD11, ARID1B, DYNC1H1, HIVEP2, NEXMIF, ZBTB18, SETD1B, DYRK1A, SRCAP, CASK, L1CAM, and KRAS. Twenty-four of these monogenic disorders have not been previously reported in the Indian population. Notably, 39 out of 53 (74%) disease-causing variants are novel. These variants were identified in the genes mainly encoding transcriptional and chromatin regulators, serine threonine kinases, lysosomal enzymes, molecular motors, synaptic proteins, neuronal migration machinery, adhesion molecules, structural proteins and signaling molecules.

Academic burnout among undergraduate nursing students: A quantitative survey approach.

BACKGROUND: Exposure of nursing students to constant work pressure, stress, and emotional turmoil during both clinical and theoretical sessions of nursing training often leads to academic burnout among them. The aim of the study was to determine the presence of academic burnout among undergraduate nursing students and the association of academic burnout with age, gender, year of nursing program, residence location, and relaxation technique practice. MATERIALS AND METHODS: A descriptive survey design was used, and data were collected from 266 undergraduate nursing students from Udupi Taluka, South India. Baseline information was collected through a demographic proforma, and Oldenburg Burnout Inventory for Students was used for assessing academic burnout. A stratified proportionate sampling technique was used to select the study sample. The data were collected from April 2021 to May 2021. Descriptive and inferential statistics were used for the analysis by using Statistical Package for the Social Sciences (SPSS) version 16. RESULTS: The study revealed that most of the participants had high levels of academic burnout (163, 61.7%), emotional exhaustion (165, 62%), and disengagement (173, 65%). Moreover, academic burnout was significantly associated with age (χ2= 8.669, P = 0.012) and relaxation technique practice (χ2= 9.263, P = 0.002). Additionally, disengagement was significantly associated with gender (χ2= 9.956, P = 0.002), residence location (χ2= 7.032, P = 0.027), and relaxation technique practice (χ2= 8.729, P = 0.003). CONCLUSIONS: Based on the findings of the study, we recommend that the faculty and administrators of nursing institutes must incorporate strategies for the prevention or reduction of academic burnout in the nursing curriculum.

Attributes of Psychosocial Distress from the Perspectives of Head-and-Neck Cancer Patients - A Thematic Analysis.

Objectives: Patients diagnosed with head-and-neck cancer (HNC) face unique challenges in comparison to other types of cancers. Sources of psychosocial distress (PSD) are multifactorial and recognising the key attributes would facilitate better understanding of the experienced distress, potentially enabling directed intervention strategies. The present research was conducted to explore the key attributes of PSD from HNC patients' perspective to develop a tool. Material and Methods: The study adopted a qualitative approach. The data were collected from nine HNC patients receiving radiotherapy through focus group discussion. Data were transcribed, read and reread through for searching the meanings and patterns, to familiarise with the data and obtain ideas on experiences related to PSD. Similar experiences identified across the dataset were sorted and then collated into themes. Detailed analysis of themes and related quotes of the participants are reported with each theme. Results: The codes generated from the study are grouped under four major themes; 'Irksome symptoms are distressing,' 'Distressing physical disability inflicted by the situation,' 'Social Curiosity - a distressing element' and 'Distressing uncertainty of future'. The attributes of PSD and the magnitude of psychosocial problems were reflected in the findings. Conclusion: Psychosocial health of HNC patients is greatly impacted due to disease and/or treatment. Dynamic patterns of attributes identified from the study contributed to developing a tool on PSD. The findings of this study also necessitate the need for constructing an intervention for reducing PSD based on the attributes from the HNC patient's perspective.

Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.

Cardiospondylocarpofacial syndrome (CSCF; MIM#157800) is a rare condition caused by monoallelic variants in the MAP3K7 gene. The characteristic features of CSCF include growth retardation, facial dysmorphism, carpal-tarsal fusion, dorsal spine synostosis, deafness, inner ear malformation, cardiac septal defect and valve dysplasia. We present here a 20-week-old fetus with cardiospondylocarpofacial syndrome arising from a de novo variant c.616T>G p.(Tyr206Asp) in the MAP3K7 (NM_145331.3) gene with early and severe tricuspid valve dysplasia as a prenatal manifestation. Fetal echocardiography revealed tricuspid regurgitation with valve prolapse. Fetus had facial dysmorphism and dilated right atrium and right ventricle with tricuspid valve dysplasia on perinatal evaluation. To the best of our knowledge, this is the first report mentioning the prenatal manifestation of cardiospondylocarpofacial syndrome.

Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.

Genetic mutations are involved in Mendelian disorders. Unbuffered intronic mutations in gene variants can generate aberrant splice sites in mutant transcripts, resulting in mutant isoforms of proteins with modulated expression, stability, and function in diseased cells. Here, we identify a deep intronic variant, c.794_1403A>G, in CRTAP by genome sequencing of a male fetus with osteogenesis imperfecta (OI) type VII. The mutation introduces cryptic splice sites in intron-3 of CRTAP, resulting in two mature mutant transcripts with cryptic exons. While transcript-1 translates to a truncated isoform (277 amino acids) with thirteen C-terminal non-wild-type amino acids, transcript-2 translates to a wild-type protein sequence, except that this isoform contains an in-frame fusion of non-wild-type twenty-five amino acids in a tetratricopeptide repeat sequence. Both mutant isoforms of CRTAP are unstable due to the presence of a unique 'GWxxI' degron, which finally leads to loss of proline hydroxylation and aggregation of type I collagen. Although type I collagen aggregates undergo autophagy, the overall proteotoxicity resulted in death of the proband cells by senescence. In summary, we present a genetic disease pathomechanism by linking a novel deep intronic mutation in CRTAP to unstable mutant isoforms of the protein in lethal OI type VII.

Effectiveness of breathing exercise on the duration of labour: A systematic review and meta-analysis.

Background: Prolonged labour intensifies labour pain, and failure to address labour pain may lead to abnormal labour and augments the usage of operative interventions. Prolonged labour is common among women, resulting in maternal morbidity, increased caesarean section (CS) rates, and postpartum complications. It may bring forth negative birth experiences that may increase the preference for CS. There is a dearth of evidence concerning the effectiveness of breathing exercises on the duration of labor. As per our knowledge, this is the first systematic review and meta-analysis on the effect of breathing exercises on the duration of labor. This systematic review and meta-analysis aimed to appraise the evidence concerning the effectiveness of breathing exercises on the duration of labour. Methods: Electronic databases MEDLINE, Cumulative Index to Nursing and Allied Health Literature (CINAHL), EMBASE, Web of Science, SCOPUS, and ClinicalKey were searched for randomized controlled trials, quasi-experimental studies published in the English language between January 2005 to March 2022 that reported on the effectiveness of breathing exercises on the duration of labour. Duration of labour was the primary analysed outcome. The secondary outcomes assessed were anxiety, duration of pain, APGAR scores, episiotomy, and mode of delivery. Meta-analysis was done using RevMan v5.3. Results: The reviewed trials involved 1418 participants, and the study participants ranged from 70 to 320. The mean gestational weeks of the participants among the reported trials was 38.9 weeks. Breathing exercise shortened the duration of the intervention group's second stage of labour compared with the control group. Conclusions: Breathing exercise is a beneficial preventive intervention in shortening the duration of second stage of labour. Registration: The review protocol was registered with PROSPERO (CRD42021247126).

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence.

Urorectal septum malformation sequence (URSMS) is characterized by a spectrum of anomalies of the urogenital system, hindgut and perineum. It is presumed to be a constellation of an embryonic defect. Herein, we analyzed the clinically diverse syndromes associated with URSMS in our perinatal evaluation unit. We reviewed fetuses with URSMS in referrals for perinatal autopsy over a period of 3 years. Chromosomal microarray and genome sequencing were performed whenever feasible. Literature was reviewed for syndromes or malformations with URSMS. We ascertained URSMS in 12 of the 215 (5%) fetuses. Nine fetuses (75%) had complete URSMS and remainder had partial/intermediate URSMS. Eleven fetuses had malformations of other systems that included: cerebral ventriculomegaly; right aortic arch with double outlet right ventricle; microcephaly with fetal akinesia deformation sequence; ventricular septal defect and radial ray anomaly; thoraco-abdominoschisis and limb defects; myelomeningocele; spina bifida and fused iliac bones; omphalocele; occipital encephalocele; lower limb amelia and cleft foot. We report on six fetuses with recurrent and five fetuses with unique malformations/patterns where URSMS is a component. Exome sequencing (one family) and genome sequencing (eight families) were performed and were nondiagnostic. Additionally, we review the literature for genetic basis of this condition. URMS is a clinically heterogeneous condition and is a component of several multiple malformation syndromes. We describe several unique and recurrent malformations associated with URSMS.

Needs, challenges, and coping strategies among primary caregivers of schizophrenia patient: A systematic review & meta-synthesis.

INTRODUCTION: Deinstitutionalization and rising psychiatric care in society have led to an increase in the role of caregivers of persons diagnosed with schizophrenia. OBJECTIVE: The objective of this systematic review was to identify and synthesize qualitative research findings that explored the needs, challenges, and coping strategies among the primary caregivers of a schizophrenia patient. METHODOLOGY: The electronic databases namely PubMed, Cumulative Index to Nursing and Allied Health Literature (CINAHL), EMBASE, Scopus, Web of Science, ProQuest, and ClinicalKey were searched to identify relevant articles published from 2005 to October 2021. The quality of the included articles was independently appraised by two reviewers using Walsh and Downe criteria and was analysed thematically. The meta-synthesis was modelled on Lucas framework. RESULTS: The richness of information across 38 papers involving 543 participants was noteworthy. The needs of the primary caregivers were rehabilitation and vocational centre, information and education, self-help groups, augmented healthcare services, and communication and collaboration. The challenges reported were treatment expenses, bizarre beliefs, self and other directed harm and violence, therapeutic noncompliance, onerous caregiving task, crumbling family relations, misconception and discrimination, and self-stigmatization. The coping strategies adopted were problem-focused coping, emotional coping, behavioural coping, coping through social support, religious coping and cognitive reappraisal. CONCLUSION: The primary caregivers provide unparalleled service to the health system and for the patient. The healthcare providers need to give undue attention to the unmet needs and challenges of the caregivers, which would benefit the health system by enabling the caregivers in providing long-term care for the schizophrenic.

Psychosocial Distress of Head Neck Cancer (HNC) Patients Receiving Radiotherapy: A Systematic Review.

BACKGROUND: Head and Neck Cancer (HNC) patients are at increased risk of psychosocial distress compared with patients with other forms of cancer. Various symptoms of the disease and side effects of treatment are attributing factors for distress. This systematic review aimed to identify the prevalence of psychosocial distress among HNC patients receiving radiotherapy. METHODS: The following search engines from 2000-2021 were searched: PubMed, CINAHL, Cochrane, Web of Science, ProQuest, Scopus, and Embase. Citation checking and extensive reference checking were also conducted. Cross-sectional, longitudinal, cohort, exploratory and prospective, repeated measure studies published in English were included. Newcastle Ottawa Scale assessed the quality, and the data were extracted on a validated data extraction form. RESULTS: Out of 782 articles, eleven records met the eligibility criteria, including 776 HNC patients receiving radiotherapy. Data were synthesized and summarized descriptively as measurements were not homogenous. Prevalence estimates of depression or depressive symptoms were calculated. Outcomes were measured with various measuring tools and reported in frequency, percentage, mean, and standard deviation in various studies. All studies reported depression ranging from 9.8% to 83.8%, and pooled estimated prevalence of depression among HNC patients receiving radiotherapy is 63% (95% CI 42-83) with significant heterogeneity (I2= 97.66%; p<0.001). An increase in the trend is observed along with treatment progression. Another three studies reported anxiety along with depression. Physical symptoms, body image, low social support, fatigue specific radiotherapy regimens were the predictive factors of depression. CONCLUSION: HNC patients are psychosocially distressed during radiotherapy, and the distress is steadily increased during the therapy. The predictive factors could serve as potential areas of intervention and supportive therapy during radiotherapy.

Smartphone de-addiction among children and adolescents: An hour of need.

Sudden closure of schools due to coronavirus disease 2019 (COVID-19) pandemic introduced extensive use of digital technology in education across the globe. The gadgets connected to the internet have become an essential part of the lives of children in the contemporary world. Children and adolescents are more exposed to smart devices for academic learning and entertainment. The concern of smartphone addiction among children and adolescents in recent decades has been heightened by the spread of COVID-19. Excessive use of smartphones has physical, psychological, and social unfavorable outcomes signifying the need for developing strategies to reduce the usage.

Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.

Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been linked to reduced fertility with teratozoospermia (SPGF36, MIM# 618420) in male carriers. We present eight patients from four unrelated families of Turkish and Indian descent with three different germline homozygous PPP2R3C variants including a novel in-frame duplication (c.639_647dupTTTCTACTC, p.Ser216_Tyr218dup). All patients exhibit recognizable facial dysmorphisms allowing gestalt diagnosis. In two 46,XX patients with hypergonadotropic hypogonadism and nonvisualized gonads, primary amenorrhea along with absence of secondary sexual characteristics and/or unique facial gestalt led to the diagnosis. 46,XY affected individuals displayed a spectrum of external genital phenotypes from ambiguous genitalia to complete female. We expand the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to both XY and XX gonadal dysgenesis. Our findings supported neither ocular nor muscular involvement as major criteria of the syndrome. We also did not encounter infertility problems in the carriers. Since both XX and XY individuals were affected, we hypothesize that PPP2R3C is essential in the early signaling cascades controlling sex determination in humans.

Student perceptions towards online learning in medical education during the COVID-19 pandemic: a mixed-methods study.

BACKGROUND: This mixed-methods study was undertaken to ascertain undergraduate medical students' perceptions of remote learning following the COVID-19 restrictions. 545 students participated in this study. METHODS: Data was collected using a validated questionnaire and four focus group discussions. RESULTS: Regarding recorded lectures, the quantitative findings indicated that they were important during online learning and the qualitative findings explained that the recorded lectures enabled individual students to pace and customize their learning. The majority of the students agreed that recorded lectures were relevant to their learning, though they watched less than 50% of recorded lectures. Qualitative findings described procrastination as the rationale for not watching the videos. The online live lectures had a relatively higher percentage of contribution towards learning in comparison with instructor recorded video lectures. Students were more engaged with live lectures, and 63.3% of respondents agreed. Qualitative findings confirmed the opportunities for interacting with peers and better clarification of doubts by teachers during live lectures. CONCLUSIONS: Online learning with recorded and live lectures provided continuity in medical education during the COVID-19 pandemic. When compared to recorded video lectures, synchronous live lectures were regarded as superior by students largely due to the opportunity to directly communicate with the instructor and receive quick feedback.