Diagnostic accuracy and the first genotype-phenotype correlation in glycogen storage disease type V.

BACKGROUND: Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. This is an underdiagnosed condition as it presents with exercise intolerance in children. We reviewed the GSDV cases of a tertiary hospital center to assess diagnostic timing/accuracy, as well as potential clinical/analytical predictors of such factors. METHODS: We retrospectively reviewed all GSDV cases with follow-up in both Pediatric and Adult Metabolic Diseases consultations. We included 28 cases and assessed their hospital record for clinical information. RESULTS: Over 90% of our cases had late diagnoses, with more than 50% being diagnosed in adulthood despite symptom onset in preschool (very late diagnosis). Diagnostic age was lower in patients exhibiting myoglobinuria. Interestingly, patients with a positive family history of GSDV had similar rates of very late diagnoses, likely since the index case was already detected very late in life. Finally, we observe that the R50* variant is associated with increased myoglobinuria and CK elevation, in a dosage-dependent manner. CONCLUSION: We concluded that GSDV is severely underdiagnosed, and that some clinical and analytical aspects of the condition can be more indicative of this diagnosis. Furthermore, we propose for the first time a genotype-phenotype correlation in GSDV. IMPACT: GSDV is a pediatric-onset metabolic disorder that is mostly diagnosed late in the adult age and commonly misdiagnosed. We observed the first genotype-phenotype correlation in GSDV, regarding the common R50* variant. Awareness of GSDV for pediatricians and the overall medical community is vital.

Ambiguous Genitalia: An Unexpected Diagnosis in a Newborn.

Alterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatening nature of congenital adrenal hyperplasia, a common cause of DSD. We present a neonate born at 39 weeks with a weak cry, slight hypotonia, poor suction reflex, peculiar facies, and ambiguous genitalia. From the study carried out, the abdominopelvic ultrasound revealed a nodular structure compatible with the left gonad. Aneuploidy screening confirmed the presence of the Y chromosome. Additionally, normal endocrinological studies and the karyotype showed a genotype compatible with cri-du-chat syndrome with partial trisomy of chromosome 3. Children with cri-du-chat syndrome characteristically exhibit a cat-like cry and distinctive facial features, along with developmental delay and intellectual disability. Duplication of 3p is a rare genetic disorder, usually associated with other chromosomal anomalies and congenital malformations, namely, of the genitals.

Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital.

Introduction - Glycogen storage disease type V (GSDV, MIM #232600) is an autosomal recessive metabolic myopathy caused by pathogenic variants in the PYGM gene. The characteristic symptoms of exercise intolerance, myalgia, and cramps, which improve after a few minutes of rest, are frequently unrecognized in affected children. When there is clinical suspicion, the initial approach with a forearm exercise test has diagnostic value by detecting low post-exercise plasma lactate-to-ammonia ratio values. The diagnostic algorithm is followed by genetic testing if the results suggest myophosphorylase deficiency. Methods - This was a retrospective observational study conducted based on reviewing medical records of patients with GSDV in a tertiary hospital. We assessed demographic variables, including the timing of onset and diagnosis, relevant clinical characteristics, and whether genetic testing was performed, including its results. Results/Case Report - Our goal was to review the GSDV cases in our center to assess our cohort's diagnostic timing and clinical and genetic characteristics. We identified 28 patients from 24 families, three with consanguinity. The mean age at the time of the study was 43 years. While most (26/28; 93%) recalled their first symptoms in childhood/adolescence, only 25% (7/28) were diagnosed then. All patients had exercise intolerance and CK elevation, while about half reported the second wind phenomenon. Genetic testing was performed in 22 patients, revealing biallelic PYGM variants (9 homozygous, 13 compound heterozygous) as the most common (p.R50*). Conclusion - GSDV is rare and presents in the pediatric age, with subtle manifestations often underestimated for decades. A late diagnosis may negatively impact the psychosocial development of affected children. It is essential to recognize some unique features that facilitate diagnosis: history of exercise intolerance, the second wind sign, and high resting serum CK levels. Identifying the disease-causing variants in PYGM is currently the gold standard for diagnosis as it is less invasive than performing a muscle biopsy, and may promptly diagnose the condition and avoid wrongful labelling of patients.

Preparation of 3D Decellularized Matrices from Fetal Mouse Skeletal Muscle for Cell Culture.

The extracellular matrix (ECM) plays a crucial role in providing structural support for cells and conveying signals that are important for various cellular processes. Two-dimensional (2D) cell culture models oversimplify the complex interactions between cells and the ECM, as the lack of a complete three-dimensional (3D) support can alter cell behavior, making them inadequate for understanding in vivo processes. Deficiencies in ECM composition and cell-ECM interactions are important contributors to a variety of different diseases. One example is LAMA2-congenital muscular dystrophy (LAMA2-CMD), where the absence or reduction of functional laminin 211 and 221 can lead to severe hypotony, detectable at or soon after birth. Previous work using a mouse model of the disease suggests that its onset occurs during fetal myogenesis. The present study aimed to develop a 3D in vitro model permitting the study of the interactions between muscle cells and the fetal muscle ECM, mimicking the native microenvironment. This protocol uses deep back muscles dissected from E18.5 mouse fetuses, treated with a hypotonic buffer, an anionic detergent, and DNase. The resultant decellularized matrices (dECMs) retained all ECM proteins tested (laminin α2, total laminins, fibronectin, collagen I, and collagen IV) compared to the native tissue. When C2C12 myoblasts were seeded on top of these dECMs, they penetrated and colonized the dECMs, which supported their proliferation and differentiation. Furthermore, the C2C12 cells produced ECM proteins, contributing to the remodeling of their niche within the dECMs. The establishment of this in vitro platform provides a new promising approach to unravel the processes involved in the onset of LAMA2-CMD, and has the potential to be adapted to other skeletal muscle diseases where deficiencies in communication between the ECM and skeletal muscle cells contribute to disease progression.

Epidemiological, Social and Economic Burden of Severe Hypoglycaemia in Patients with Diabetes Mellitus in Portugal: A Structured Literature Review.

INTRODUCTION: The aim of this review was to identify and review studies reporting on the epidemiological, social and economic impact associated with severe hypoglycaemia (SH) in people with diabetes mellitus (DM) in Portugal. METHODS: A structured literature search was carried out in PubMed and Embase using a predefined selection criterion. Studies published in either Portuguese or English, between January 2010 and February 2021 were deemed eligible for inclusion. RESULTS: Twelve studies including adults (aged ≥ 18 years) with type 1 and/or type 2 diabetes mellitus (T1DM/T2DM) were eligible for inclusion. Epidemiological estimates varied according to the setting and type of data source used. The proportion of patients who experienced ≥ 1 SH episode (SHE) in the previous 6-12 months varied from 3.1% in adults with T2DM to 36.8% in adults with T1DM. In adults with T2DM the prevalence in a community-based study was highest in the insulin and secretagogue combination treated group (9.1%), while in an emergency department setting prevalence was highest in the insulin-based therapy group and the oral hypoglycaemic agent without secretagogues group (32.0% and 20.0%, respectively). The prevalence of SH in other studies in patients with DM ranged from 0.1% (emergency department) to 18.1% (hospital ward). Patients treated with secretagogues had the highest rates of hospitalisations. In patients with T1DM, the annual rate of SHE was higher in those with impaired hypoglycaemia awareness than in those with intact awareness. Mean total cost (direct and indirect) per SHE ranged from €1493.00 in patients with T2DM treated in an emergency setting to €2608.51 in patients with T1DM who were hospitalised. CONCLUSION: Hypoglycaemic events, especially SHE, have a significant effect on the life of persons living with DM and their caregivers. Studies show that the prevalence of this acute complication of diabetes is not negligible. In addition to the negative impact on the quality of life, the burden of SHE in Portugal translates into a significant impact on the global health expenditure.

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center.

OBJECTIVE: Genetic counseling and carrier screening are part of the gamete donation process by healthy individuals. We aim to review the findings of genetic counseling and carrier screening of a cohort of candidates at our public gametes bank. METHODS: Thirty-four male and 64 female candidates had genetic counseling with a medical geneticist before donation. Of these, one female candidate voluntarily dropped-out. Thirty-four males and 63 females performed karyotype and screening for the more common pathogenic variants for CFTR-related cystic fibrosis and spinal muscular atrophy (SMN1) in the Portuguese population. In addition, all females also performed Fragile X expansion screening (FMR1). Thirty candidates with known or assumed African ancestry performed hemoglobinopathies screening. RESULTS: Six candidates were definitely or temporarily withheld from the donation process given their family or personal history that required further investigation. Of 97 candidates tested, 16.5% presented anomalous laboratory results (16/97): ten candidates were carriers for an autosomal recessive disorder - cystic fibrosis (5/97), sickle cell anemia (3/30), and spinal muscular atrophy (2/97). One female was an FMR1 pre-mutation carrier (1/63). One female candidate presented with triple X mosaicism: 47,XXX[2]/46,XX[50]. Two candidates presented with chromosomal instability of unknown origin. In one candidate, a mosaic for the Philadelphia chromosome was detected, revealing the diagnosis of chronic myeloid leukemia. CONCLUSIONS: From a cohort of 97 candidates, 21.7% had a family/personal history or an anomalous laboratory result that required additional genetic counseling, stressing the importance of performing pre-donation genetic counseling in this population.

Maturity-onset diabetes of the young in a large Portuguese cohort.

AIMS: Monogenic forms of diabetes that develop with autosomal dominant inheritance are classically aggregated in the Maturity-Onset Diabetes of the Young (MODY) categories. Despite increasing awareness, its true prevalence remains largely underestimated. We describe a Portuguese cohort of individuals with suspected monogenic diabetes who were genetically evaluated for MODY-causing genes. METHODS: This single-center retrospective cohort study enrolled patients with positive genetic testing for MODY between 2015 and 2021. Automatic sequencing and, in case of initial negative results, next-generation sequencing were performed. Their clinical and molecular characteristics were described. RESULTS: Eighty individuals were included, 55 with likely pathogenic/pathogenic variants in one of the MODY genes and 25 MODY-positive family members, identified by cascade genetic testing. The median age at diabetes diagnosis was 23 years, with a median HbA1c of 6.5%. The most frequently mutated genes were identified in HNF1A (40%), GCK (34%) and HNF4A (13%), followed by PDX1, HNF1B, INS, KCNJ11 and APPL1. Thirty-six unique variants were found (29 missense and 7 frameshift variants), of which ten (28%) were novel. CONCLUSIONS: Our data highlights the importance of genetic testing in the diagnosis of MODY and the establishment of its subtypes, leading to more personalized treatment and follow-up strategies.

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.

The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, including global developmental delay/intellectual disability, behavioral disorders, autism spectrum disorder and variable dysmorphic features. Depending on the genes involved in the microduplication, it can be categorized in two subtypes with different phenotypes. Here, we report a case of a 7-year-old boy with global developmental delay, speech impairment, hypotonia, behavioral conditions (ADHD and ODD), non-specific dysmorphic features and overgrowth. Genetic testing revealed a small 17p13.3 chromosomal duplication, which included the BHLHA9, CRK and YWHAE genes. Additionally, we observed that this was maternally inherited, and that the mother presented with a milder phenotype including mild learning disabilities, speech impairment and non-specific dysmorphic features, which did not significantly affect her. In conclusion, we present a clinical case of a 17p13.3 duplication that further delineates the clinical spectrum of this syndrome, including its intrafamilial/intergenerational variability.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (CDDG) caused by loss of function of an enzyme involved in fOS metabolism, has elicited increased interest in fOS processing. The catabolism of fOSs has been linked to the activity of a specific cytosolic mannosidase, MAN2C1, which cleaves α1,2-, α1,3-, and α1,6-mannose residues. In this study, we report the clinical, biochemical, and molecular features of six individuals, including two fetuses, with bi-allelic pathogenic variants in MAN2C1; the individuals are from four different families. These individuals exhibit dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Complementation experiments with isogenic MAN2C1-KO HAP1 cells confirm the pathogenicity of three of the identified MAN2C1 variants. We further demonstrate that MAN2C1 variants lead to accumulation and delay in the processing of fOSs in proband-derived cells. These results emphasize the involvement of MAN2C1 in human neurodevelopmental disease and the importance of fOS catabolism.

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

PURPOSE: Prolidase deficiency is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. We aim to provide a quantitative description of the natural history of the condition by describing 19 affected individuals and reviewing the literature. METHODS: Nineteen patients were phenotyped per local institutional procedures. A systematic review following PRISMA criteria identified 132 articles describing 161 patients. Main outcome analyses were performed for manifestation frequency, diagnostic delay, overall survival, symptom-free survival, and ulcer-free survival. RESULTS: Our cohort presented a wide variability of severity. Autoimmune disorders were found in 6/19, including Crohn disease, systemic lupus erythematosus, and arthritis. Another immune finding was hemophagocytic lymphohistiocytosis (HLH). Half of published patients were symptomatic by age 4 and had a delayed diagnosis (mean delay 11.6 years). Ulcers were present initially in only 30% of cases, with a median age of onset at 12 years old. CONCLUSION: Prolidase deficiency has a broad range of manifestations. Symptoms at onset may be nonspecific, likely contributing to the diagnostic delay. Testing for this disorder should be considered in any child with unexplained autoimmunity, lower extremity ulcers, splenomegaly, or HLH.

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.

In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.

Spine Cop: Posture Correction Monitor and Assistant.

Back and spine-related issues are frequent maladies that most people have or will experience during their lifetime. A common and sensible observation that can be made is regarding the posture of an individual. We present a new approach that combines accelerometer, gyroscope, and magnetometer sensor data in combination with permanent magnets assembled as a wearable device capable of real-time spine posture monitoring. An independent calibration of the device is required for each user. The sensor data is processed by a probabilistic classification algorithm that compares the real-time data with the calibration result, verifying whether the data point lies within regions of confidence defined by a computed threshold. An incorrect posture classification is considered if both accelerometer and magnetometer classify the posture as incorrect. A pilot trial was performed in a single adult test subject. The combination of the magnets and magnetometer greatly improved the posture classification accuracy (89%) over the accuracy obtained when only accelerometer data were used (47%). The validation of this method was based on image analysis.

Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case Concerning PMM2 Gene Pleiotropy.

Co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.

Evaluation of the ischiofemoral space: a case-control study.

OBJECTIVE: To determine the size of the ischiofemoral space (IFS) and quadratus femoris space (QFS) in patients with and without ischiofemoral impingement (IFI). MATERIALS AND METHODS: Case-control study including consecutive patients submitted to magnetic resonance imaging (MRI) of the hip joint during a three-month period. Patients with deep gluteal pain who tested positive for IFI on at least one clinical test and showed signal changes in the quadratus femoris muscle on MRI were categorized as having a confirmed diagnosis of IFI. RESULTS: Final sample comprised 50 patients submitted to unilateral MRI of the hip joint. The mean age was 47.3 ± 14.0 years (range, 22-76 years), and 33 (66%) of the patients were women. A diagnosis of IFI was made in 6 patients (12%), all of whom were female. On average, IFS and QFS were significantly smaller in IFI group than in control group (11.1 ± 2.7 mm versus 27.5 ± 6.5 mm and 5.3 ± 1.8 mm versus 18.8 ± 4.8 mm, respectively; p < 0.001 for both). CONCLUSION: Results of specific clinical tests and MRI findings indicate that the IFS and QFS are significantly reduced in patients with IFI.

OBJETIVO: Avaliar, prospectivamente, os valores médios dos espaços isquiofemoral e quadrado femoral em pacientes com impacto isquiofemoral e em um grupo controle. MATERIAIS E MÉTODOS: Estudo prospectivo incluindo pacientes submetidos a ressonância magnética da articulação do quadril em um intervalo de três meses. Os pacientes com dor glútea profunda, com pelo menos um teste clínico positivo para impacto isquiofemoral e alterações de sinal no músculo quadrado femoral na ressonância magnética, foram diagnosticados com impacto isquiofemoral. RESULTADOS: A amostra final consistiu de 50 pacientes submetidos a ressonância magnética unilateral da articulação do quadril. A idade média foi 47,3 ± 14,0 anos (intervalo de 22 a 76 anos) e 33 (66%) eram mulheres. O diagnóstico de impacto isquiofemoral foi observado em 6 (12%) pacientes, todas mulheres. Os pacientes com impacto isquiofemoral mostraram redução significativa nos espaços isquiofemoral e quadrado femoral quando comparados ao grupo controle: 11,1 ± 2,7 mm versus 27,5 ± 6,5 mm e 5,3 ± 1,8 mm versus 18,8 ± 4,8 mm, respectivamente (p < 0,001 para ambos os grupos). CONCLUSÃO: Os pacientes com diagnóstico de impacto isquiofemoral apresentaram redução significativa dos espaços isquiofemoral e quadrado femoral após análise prospectiva baseada em testes clínicos específicos e ressonância magnética.

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases.

INTRODUCTION: Intellectual disability affects 2% - 3% of the general population, with a chromosomal abnormality being found in 4% - 28% of these patients and a cryptic subtelomeric abnormality in 3% - 16%. In most cases, these subtelomeric rearrangements are submicroscopic, requiring techniques other than conventional karyotype for detection. They may be de novo or inherited from an affected parent or from a healthy carrier of a balanced chromosomal abnormality. The aim of this study was to characterize patients from our medical genetics center, in whom both a deletion and duplication in subtelomeric regions were found. MATERIAL AND METHODS: Clinical and cytogenetic characterization of 21 probands followed at our center, from 1998 until 2017, with subtelomeric rearrangements. RESULTS: There were 21 probands from 19 families presenting with intellectual disability and facial dysmorphisms. Seven had behavior changes, five had epilepsy and 14 presented with some other sign or symptom. Four had chromosomal abnormalities detected by conventional karyotype and four were diagnosed by array-comparative genomic hybridization. In four cases, parental studies were not possible. The online mendelian inheritance in man classification was provided whenever any of the phenotypes (deletion or duplication syndrome) was dominant. DISCUSSION: Patients and relevant family members were clinically and cytogenetically characterized. Although rare, subtelomeric changes are a substantial cause of syndromic intellectual disability with important familial repercussions. It is essential to remember that a normal array-comparative genomic hybridization result does not exclude a balanced rearrangement in the parents. CONCLUSION: Parental genetic studies are essential not only for a complete characterization of the rearrangement, but also for accurate genetic counselling and screening of family members at risk for recurrence.

Introdução: O défice intelectual afeta 2% ­ 3% da população geral, sendo encontrada uma alteração cromossómica em 4% ­ 28% dos casos e uma alteração subtelomérica em 3% ­ 16%. Estas alterações subteloméricas são, na maioria dos casos, submicroscópi- cas, não sendo detetadas no cariótipo convencional. Podem ser de novo ou herdadas de um progenitor afetado ou de um progenitor saudável portador de um rearranjo equilibrado. O objetivo deste estudo foi caracterizar os doentes seguidos no nosso centro de gené- tica médica com uma deleção e uma duplicação nas regiões subteloméricas. Material e Métodos: Caracterização clínica e citogenética de 21 probandos com alterações subteloméricas seguidos no nosso centro entre 1998 e 2017. Resultados: Foram caracterizados 21 probandos que apresentavam défice intelectual e dismorfia facial, pertencentes a 19 famílias. Sete tinham alterações do comportamento, cinco epilepsia e 14 outro sinal ou sintoma. Quatro tinham alterações no cariótipo e quatro foram diagnosticados por array-comparative genomic hybridization. Em quatro famílias não foi possível o estudo dos progenitores. Quando um dos fenótipos era dominante (síndrome de deleção ou duplicação), foi atribuída a classificação online mendelian inheri- tance in man. Discussão: Foi realizada classificação dos doentes e das famílias. As alterações nas regiões subteloméricas são, apesar de raras, uma causa substancial para défice intelectual sindrómico com repercussões familiares importantes. É essencial lembrar que um array- comparative genomic hybridization normal não exclui um rearranjo equilibrado familiar. Conclusão: O estudo dos progenitores é essencial não só para caracterização completa do rearranjo mas também para um aconse- lhamento genético preciso e identificação de familiares em risco de recorrência.

Evaluation of the ischiofemoral space: a case-control study / Avaliação do espaço isquiofemoral: um estudo caso-controle

Abstract Objective: To determine the size of the ischiofemoral space (IFS) and quadratus femoris space (QFS) in patients with and without ischiofemoral impingement (IFI). Materials and Methods: Case-control study including consecutive patients submitted to magnetic resonance imaging (MRI) of the hip joint during a three-month period. Patients with deep gluteal pain who tested positive for IFI on at least one clinical test and showed signal changes in the quadratus femoris muscle on MRI were categorized as having a confirmed diagnosis of IFI. Results: Final sample comprised 50 patients submitted to unilateral MRI of the hip joint. The mean age was 47.3 ± 14.0 years (range, 22-76 years), and 33 (66%) of the patients were women. A diagnosis of IFI was made in 6 patients (12%), all of whom were female. On average, IFS and QFS were significantly smaller in IFI group than in control group (11.1 ± 2.7 mm versus 27.5 ± 6.5 mm and 5.3 ± 1.8 mm versus 18.8 ± 4.8 mm, respectively; p < 0.001 for both). Conclusion: Results of specific clinical tests and MRI findings indicate that the IFS and QFS are significantly reduced in patients with IFI.

Resumo Objetivo: Avaliar, prospectivamente, os valores médios dos espaços isquiofemoral e quadrado femoral em pacientes com impacto isquiofemoral e em um grupo controle. Materiais e Métodos: Estudo prospectivo incluindo pacientes submetidos a ressonância magnética da articulação do quadril em um intervalo de três meses. Os pacientes com dor glútea profunda, com pelo menos um teste clínico positivo para impacto isquiofemoral e alterações de sinal no músculo quadrado femoral na ressonância magnética, foram diagnosticados com impacto isquiofemoral. Resultados: A amostra final consistiu de 50 pacientes submetidos a ressonância magnética unilateral da articulação do quadril. A idade média foi 47,3 ± 14,0 anos (intervalo de 22 a 76 anos) e 33 (66%) eram mulheres. O diagnóstico de impacto isquiofemoral foi observado em 6 (12%) pacientes, todas mulheres. Os pacientes com impacto isquiofemoral mostraram redução significativa nos espaços isquiofemoral e quadrado femoral quando comparados ao grupo controle: 11,1 ± 2,7 mm versus 27,5 ± 6,5 mm e 5,3 ± 1,8 mm versus 18,8 ± 4,8 mm, respectivamente (p < 0,001 para ambos os grupos). Conclusão: Os pacientes com diagnóstico de impacto isquiofemoral apresentaram redução significativa dos espaços isquiofemoral e quadrado femoral após análise prospectiva baseada em testes clínicos específicos e ressonância magnética.

Níveis de ideação suicida em jovens adultos / Levels of suicidal ideation among young adults

O suicídio constitui um grave problema para a saúde pública. Está entre as dez principais causas de morte na população mundial em todas as faixas etárias e ocupa o terceiro lugar em jovens entre 15 e 35 anos. O presente estudo é quasi-experimental, quantitativo e transversal, e tem como principal objetivo comparar os níveis de ideação suicida entre estudantes universitários (n = 50) versus não universitários (n = 51). Os sujeitos foram comparados em função do sexo, idade, local de residência, se vivem acompanhados ou sozinhos, nível de escolaridade e estado ocupacional. O instrumento utilizado foi o Questionário de Ideação Suicida. A amostra foi constituída por 101 indivíduos com idades compreendidas entre 18 e 25 anos, com média de 21,44 anos e desvio-padrão de 2,43. Os resultados evidenciaram que os maiores níveis de ideação suicida encontram-se na população não universitária. Os efeitos estatísticos com significado foram encontrados nas comparações por escolaridade, estatuto ocupacional, viver sozinho e presença de perturbação de ansiedade e/ou depressão. Os resultados do estudo sugerem que sejam adotadas medidas de prevenção do suicídio de forma a reduzir não só a taxa letal, mas também o número de tentativas.(AU)

Suicide is a serious public health problem and is among the top ten causes of death worldwide for all age groups. It is the third leading cause among 15-35-year olds. The main objective of this quasi-experimental, quantitative, and cross-sectional study was to compare the levels of suicidal ideation among college students (n = 50) and nonstudents (n = 51). Subjects were compared according to sex, age, place of residence, living arrangements, educational level, and occupational status using the Suicidal Ideation Questionnaire. The sample consisted of 101 individuals aged 18-25 years, Mean of 21.44 years and Standard Deviation of 2.43. The results showed higher levels of suicidal ideation among the non-college students. Statistically significant effects were found among the following variables: level of education, occupational status, living alone, and presence of anxiety disorder and/or depression. The findings of this study suggest the need for suicide prevention measures in order to reduce deaths by suicide and suicide attempt rate.(AU)

Níveis de ideação suicida em jovens adultos / Levels of suicidal ideation among young adults

O suicídio constitui um grave problema para a saúde pública. Está entre as dez principais causas de morte na população mundial em todas as faixas etárias e ocupa o terceiro lugar em jovens entre 15 e 35 anos. O presente estudo é experimental, quantitativo e transversal, e tem como principal objetivo comparar os níveis de ideação suicida entre estudantes universitários (n = 50) versus não universitários (n = 51). Os sujeitos foram comparados em função do sexo, idade, local de residência, se vivem acompanhados ou sozinhos, nível de escolaridade e estado ocupacional. O instrumento utilizado foi o Questionário de Ideação Suicida. A amostra foi constituída por 101 indivíduos com idades compreendidas entre 18 e 25 anos, com média de 21,44 anos e desvio padrão de 2,43. Os resultados evidenciaram que os maiores níveis de ideação suicida encontram-se na população não universitária. Os efeitos estatísticos com significado foram encontrados nas comparações por escolaridade, estatuto ocupacional, viver sozinho e presença de perturbação de ansiedade e/ou depressão. Os resultados do estudo sugerem que sejam adotadas medidas de prevenção do suicídio de forma a reduzir não só a taxa letal, mas também o número de tentativas.

Suicide is a serious public health problem and is among the top ten causes of death worldwide for all age groups. It is the third leading cause among 15-35-year olds. The main objective of this quasi-experimental, quantitative, and cross-sectional study was to compare the levels of suicidal ideation among college students (n = 50) and nonstudents (n = 51). Subjects were compared according to sex, age, place of residence, living arrangements, educational level, and occupational status using the Suicidal Ideation Questionnaire. The sample consisted of 101 individuals aged 18-25 years, Mean of 21.44 years and Standard Deviation of 2.43. The results showed higher levels of suicidal ideation among the non-college students. Statistically significant effects were found among the following variables: level of education, occupational status, living alone, and presence of anxiety disorder and/or depression. The findings of this study suggest the need for suicide prevention measures in order to reduce deaths by suicide and suicide attempt rate.