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1.
Endocrinol Diabetes Nutr (Engl Ed) ; 71(4): 171-176, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38735678

RESUMO

Herlyn-Werner-Wunderlich syndrome is an uncommon urogenital anomaly defined by uterus didelphys, obstructed hemi-vagina and unilateral renal anomalies. The most common clinical presentation is dysmenorrhoea following menarche, but it can also present as pain and an abdominal mass. Prader-Willi syndrome is a rare neuroendocrine genetic syndrome. Hypothalamic dysfunction is common and pituitary hormone deficiencies including hypogonadism are prevalent. We report the case of a 33-year-old female with Prader-Willi syndrome who was referred to the Gynaecology clinic due to vaginal bleeding and abdominal pain. Abdominal ultrasound revealed a haematometra and haematocolpos and computed tomography showed a uterus malformation and a right uterine cavity occupation (hematometra) as well as right kidney agenesis. Vaginoscopy and hysteroscopy were performed under general anaesthesia, finding a right bulging vaginal septum and a normal left cervix and hemiuterus. Septotomy was performed with complete haematometrocolpos drainage. The association of the two syndromes remains unclear.


Assuntos
Nefropatias/congênito , Rim , Síndrome de Prader-Willi , Útero , Vagina , Humanos , Feminino , Adulto , Síndrome de Prader-Willi/complicações , Vagina/anormalidades , Vagina/cirurgia , Rim/anormalidades , Útero/anormalidades , Útero/diagnóstico por imagem , Anormalidades Múltiplas , Hematometra/etiologia , Hematocolpia/etiologia , Anormalidades Urogenitais/complicações , Anormalidades Congênitas , Dor Abdominal/etiologia
2.
Front Endocrinol (Lausanne) ; 15: 1366015, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38774226

RESUMO

Introduction: Nonalcoholic fatty liver disease (NAFLD) affects a quarter of the world's population and encompasses a spectrum of liver conditions, from non-alcoholic steatohepatitis (NASH) to inflammation and fibrosis. In addition, NAFLD also links to extrahepatic conditions like diabetes or obesity. However, it remains unclear if NAFLD independently correlates with the onset and progression of atherosclerosis. Material and methods: This cross-sectional study aimed to explore the relationship between NAFLD severity, assessed via liver biopsy, and early atherosclerosis using adventitial vasa vasorum (VV) density. It included 44 patients with obesity (33 with steatosis, 11 with NASH) undergoing bariatric surgery. Results: Results revealed no significant differences in adventitial VV density between steatosis and NASH groups, neither in the mean values [0.759 ± 0.104 vs. 0.780 ± 0.043, P=0.702] nor left-right sides. Similarly, carotid intima-media thickness (cIMT) did not vary between these groups. Additionally, no linear correlation existed between VV density and cIMT. Only gender showed an association with VV density. Conclusion: These findings suggest that NASH severity doesn't independently drive early atherosclerosis or affects cIMT. Gender might play a role in early atherosclerotic disease in NAFLD, impacting VV density and cIMT. This highlights the need to consider other risk factors when evaluating cardiovascular risk in NAFLD patients.


Assuntos
Espessura Intima-Media Carotídea , Hepatopatia Gordurosa não Alcoólica , Índice de Gravidade de Doença , Vasa Vasorum , Humanos , Hepatopatia Gordurosa não Alcoólica/patologia , Hepatopatia Gordurosa não Alcoólica/complicações , Masculino , Feminino , Vasa Vasorum/patologia , Estudos Transversais , Pessoa de Meia-Idade , Adulto , Túnica Adventícia/patologia , Aterosclerose/patologia , Obesidade/patologia , Obesidade/complicações
3.
Surg Obes Relat Dis ; 20(9): 814-821, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38744640

RESUMO

BACKGROUND: Obesity is a polygenic multifactorial disease. Recent genome-wide association studies have identified several common loci associated with obesity-related phenotypes. Bariatric surgery (BS) is the most effective long-term treatment for patients with severe obesity. The huge variability in BS outcomes between patients suggests a moderating effect of several factors, including the genetic architecture of the patients. OBJECTIVE: To examine the role of a genetic risk score (GRS) based on 7 polymorphisms in 5 obesity-candidate genes (FTO, MC4R, SIRT1, LEP, and LEPR) on weight loss after BS. SETTING: University hospital in Spain. METHODS: We evaluated a cohort of 104 patients with severe obesity submitted to BS (Roux-en-Y gastric bypass or sleeve gastrectomy) followed up for >60 months (lost to follow-up, 19.23%). A GRS was calculated for each patient, considering the number of carried risk alleles for the analyzed genes. During the postoperative period, the percentage of excess weight loss total weight loss and changes in body mass index were evaluated. Generalized estimating equation models were used for the prospective analysis of the variation of these variables in relation to the GRS. RESULTS: The longitudinal model showed a significant effect of the GRS on the percentage of excess weight loss (P = 1.5 × 10-5), percentage of total weight loss (P = 3.1 × 10-8), and change in body mass index (P = 7.8 × 10-16) over time. Individuals with a low GRS seemed to experience better outcomes at 24 and 60 months after surgery than those with a higher GRS. CONCLUSION: The use of the GRS in considering the polygenic nature of obesity seems to be a useful tool to better understand the outcome of patients with obesity after BS.


Assuntos
Obesidade Mórbida , Redução de Peso , Humanos , Redução de Peso/genética , Feminino , Masculino , Adulto , Seguimentos , Obesidade Mórbida/genética , Obesidade Mórbida/cirurgia , Pessoa de Meia-Idade , Dioxigenase FTO Dependente de alfa-Cetoglutarato/genética , Cirurgia Bariátrica , Receptor Tipo 4 de Melanocortina/genética , Leptina/genética , Receptores para Leptina/genética , Derivação Gástrica , Predisposição Genética para Doença , Índice de Massa Corporal , Polimorfismo de Nucleotídeo Único/genética , Estratificação de Risco Genético
4.
J Gastrointest Surg ; 28(9): 1400-1405, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38821212

RESUMO

BACKGROUND: Bariatric surgery (BS) is currently the most effective long-term treatment of severe obesity. However, the interindividual variability observed in surgical outcomes suggests a moderating effect of several factors, including individual genetic background. This study aimed to investigate the contribution of the genetic architecture of body mass index (BMI) to the variability in weight loss outcomes after BS. METHODS: A total of 106 patients with severe obesity who underwent Roux-en-Y gastric bypass (RYGB) or sleeve gastrectomy were followed up for 5 years. Changes in BMI (BMIchange) and percentage of total weight loss (%TWL) were evaluated during the postoperative period. Polygenic risk scores (PRSs), including 50 genetic variants, were calculated for each participant to determine their genetic risk of high BMI based on a previous genome-wide association study. Generalized estimating equation models were used to study the role of the individual's polygenic score and other factors on BMIchange and %TWL in the long term after surgery. RESULTS: This study found an effect of the polygenic score on %TWL and BMIchange, in which patients with lower scores had better outcomes after surgery than those with higher scores. Furthermore, when analyzing only patients who underwent RYGB, the results were replicated, showing greater weight loss after surgery for patients with lower polygenic scores. DISCUSSION: Our results indicate that genetic background assessed with PRSs, along with other individual factors, such as biological sex, age, and preoperative BMI, has an effect on BS outcomes and could represent a useful tool for estimating surgical outcomes in advance.


Assuntos
Índice de Massa Corporal , Derivação Gástrica , Obesidade Mórbida , Redução de Peso , Humanos , Feminino , Redução de Peso/genética , Masculino , Seguimentos , Adulto , Pessoa de Meia-Idade , Obesidade Mórbida/cirurgia , Obesidade Mórbida/genética , Derivação Gástrica/métodos , Derivação Gástrica/efeitos adversos , Gastrectomia/métodos , Gastrectomia/efeitos adversos , Resultado do Tratamento , Herança Multifatorial , Medição de Risco/métodos , Cirurgia Bariátrica/métodos , Estratificação de Risco Genético
5.
Endocrinol Diabetes Nutr (Engl Ed) ; 71(2): 83-87, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38553173

RESUMO

Prader-Willi Syndrome (PWS) is the most common genetic cause of obesity, occurring in approximately 1 in 15,000 newborns. It results from the lack of expression of genes on the paternal allele of the chromosomal region 15q-11q13 (65-75% due to type 1 or type 2 deletion). Individuals with PWS experience associated symptoms such as hypotonia, hyperphagia, and early-onset obesity (before 5 years of age). Around 20% of adults with PWS also develop type 2 diabetes. Previous studies have shown the beneficial effects of GLP1-RA medications, such as exenatide and liraglutide, in treating type 2 diabetes in PWS. However, there is limited information available on the use of semaglutide in PWS. This study aimed to evaluate the effects of semaglutide on weight loss and glycaemic control in four patients with PWS and type 2 diabetes associated with obesity. The patients were started on weekly subcutaneous progressive doses of semaglutide.


Assuntos
Diabetes Mellitus Tipo 2 , Peptídeos Semelhantes ao Glucagon , Síndrome de Prader-Willi , Adulto , Humanos , Recém-Nascido , Síndrome de Prader-Willi/tratamento farmacológico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/complicações , Controle Glicêmico/efeitos adversos , Obesidade/complicações , Obesidade/tratamento farmacológico , Redução de Peso
7.
Front Endocrinol (Lausanne) ; 14: 1244361, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37810884

RESUMO

Background: Approximately 10% of primary hyperparathyroidism cases are hereditary, due to germline mutations in certain genes. Although clinically relevant, a systematized genetic diagnosis is missing due to a lack of firm evidence regarding individuals to test and which genes to evaluate. Methods: A customized gene panel (AIP, AP2S1, CASR, CDC73, CDKN1A, CDKN1B, CDKN2B, CDKN2C, GCM2, GNA11, MEN1, PTH, RET, and TRPV6) was performed in 40 patients from the Mediterranean area with suspected familial hyperparathyroidism (≤45 years of age, family history, high-risk histology, associated tumour, multiglandular disease, or recurrent hyperparathyroidism). We aimed to determine the prevalence of germline variants in these patients, to clinically characterize the probands and their relatives, and to compare disease severity in carriers versus those with a negative genetic test. Results: Germline variants were observed in 9/40 patients (22.5%): 2 previously unknown pathogenic/likely pathogenic variants of CDKN1B (related to MEN4), 1 novel variant of uncertain significance of CDKN2C, 4 variants of CASR (3 pathogenic/likely pathogenic variants and 1 variant of uncertain significance), and 2 novel variants of uncertain significance of TRPV6. Familial segregation studies allowed diagnosis and early treatment of PHPT in first-degree relatives of probands. Conclusion: The observed prevalence of germline variants in the Mediterranean cohort under study was remarkable and slightly higher than that seen in other populations. Genetic screening for suspected familial hyperparathyroidism allows the early diagnosis and treatment of PHPT and other related comorbidities. We recommend genetic testing for patients with primary hyperparathyroidism who present with high-risk features.


Assuntos
Hiperparatireoidismo Primário , Humanos , Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/genética , Hiperparatireoidismo Primário/patologia , Perfil Genético , Testes Genéticos , Mutação em Linhagem Germinativa
8.
Sci Rep ; 13(1): 16172, 2023 09 27.
Artigo em Inglês | MEDLINE | ID: mdl-37758783

RESUMO

Presurgical psychopathological assessment usually focuses on detecting severe mental disorders. However, mild intensity psychopathology and eating behaviour pattern may also influence postsurgical outcomes. The aim was to identify psychopathology and eating behaviour pattern in candidates prepared for bariatric surgery compared to a normative population before and after surgery. A cohort of 32 patients seeking bariatric surgery in a university hospital between March 2016 and March 2017 were evaluated with Personality Assessment Inventory (PAI), 36-item EDE-Q and BES before and after surgery. Thirty-two patients before and 26 one year after surgery were included. The PAI presurgical psychometric profile suggested a mild mixed adjustment disorder focused on somatic complaints. After surgery, patients improved in somatic complaints (p < 0.001), and depression (p = 0.04). Related eating disorders were more common than those of the normative group and improved significantly after surgery in scores for compulsive intake (BES p < 0.001) and overall key behaviours of eating disorders and related cognitive symptoms (EDE-Q/G p < 0.001). In our cohort ready for bariatric surgery a mild psychopathological profile is still present and becomes closer to that of the normative group after surgery. Further studies are needed to evaluate the effects of mild psychopathology on outcomes after bariatric surgery.


Assuntos
Cirurgia Bariátrica , Transtornos da Alimentação e da Ingestão de Alimentos , Obesidade Mórbida , Humanos , Psicopatologia , Psicometria , Obesidade Mórbida/cirurgia , Obesidade Mórbida/psicologia
9.
Front Endocrinol (Lausanne) ; 14: 1168648, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37547314

RESUMO

Background: Prader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and hypothalamic dysfunction. Adults with PWS often have obesity, hypertension and type 2 diabetes mellitus (DM2), known risk factors for cardiovascular disease (CVD) and chronic kidney disease (CKD). Early symptoms of CVD and CKD may be masked by intellectual disability and inability to express physical complaints. Furthermore, kidney diseases are often asymptomatic. Therefore, renal and cardiovascular disease might be missed in patients with PWS. Microalbuminuria is an early sign of microvascular damage in the kidneys and other vascular beds. Therefore, we screened our adult PWS cohort for the presence of elevated urinary albumin and (micro)albuminuria. Methods: We retrospectively collected anthropometric measurements, blood pressure, medical history, medication use, urine dipstick and biochemical measurements form electronic patient files. In addition, we performed a systematic literature review on kidney disease in PWS. Results: We included 162 adults with genetically confirmed PWS (56% male, median age 28 years), of whom 44 (27%) had DM2. None had known CVD. All subjects had normal estimated glomerular filtration rate (eGFR) according to non-PWS reference intervals. Elevated urinary albumin or (micro)albuminuria was present in 28 (18%); 19 out of 75 (25%) had an increased urinary albumin-to-creatinine ratio (UACR) and 10 out of 57 (18%) had an increased urinary protein-to-creatinine ratio. Elevated urinary albumin was present at a young age (median age 26 (IQR 24-32) years) and was associated with an significantly higher BMI and LDL-cholesterol levels and higher prevalence of DM2, hypertension and dyslipidemia than those with normal UACR (p=0.027, p=0.019, p<0.001, p<0.001, p=0.011 and respectively). Conclusion: Upon screening, one in every five adults with PWS had increased urinary albumin or (micro)albuminuria, early signs of microvascular disease. All had normal eGFR, according to non-PWS reference intervals, and none had a formal diagnosis of CVD. As muscle mass is low in PWS, creatinine levels and eGFR may be spuriously normal. Urinalysis in this patient group can be used as a screening tool for microvascular (kidney) disease. We propose an algorithm for the detection and management of microvascular disease in adults with PWS.


Assuntos
Doenças Cardiovasculares , Diabetes Mellitus Tipo 2 , Hipertensão , Síndrome de Prader-Willi , Insuficiência Renal Crônica , Humanos , Adulto , Masculino , Adulto Jovem , Feminino , Estudos de Coortes , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Estudos Retrospectivos , Creatinina , Albuminúria/epidemiologia , Albuminúria/etiologia , Hipertensão/complicações , Hipertensão/epidemiologia , Doenças Cardiovasculares/epidemiologia , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/epidemiologia , Albuminas
10.
J Clin Med ; 12(12)2023 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-37373659

RESUMO

Prader-Willi Syndrome (PWS) is the most frequent cause of genetic obesity. Early reports indicate that children with PWS require 20-40% fewer calories than healthy children to maintain adequate growth. Growth hormone treatment for children with PWS, approved in 2000, affects the body composition and probably affects energy requirements. This retrospective cross-sectional study analyzed the caloric intake in children with PWS aged from 6 months to 12 years old who underwent growth hormone treatment, comparing the patients' caloric intake calculated from parent-recorded dietary intake versus the recommended caloric intake for healthy children, taking into account the age, sex, height, weight, and physical activity. We analyzed the data from 25 patients (13 (52%) boys; mean age, 6.72 ± 2.81 y; median age at starting growth hormone treatment, 1.4 y (IQR: 0.78-2.29); 17 (68%) normal weight and 8 (32%) overweight or obese). The mean daily energy intake was 1208 ± 186 kcal/d, representing 96.83% ± 18.66 of the recommended caloric intake for healthy children. The caloric intake in children with PWS treated with growth hormone was very similar to that recommended for healthy children; thus, we should rethink the dietary recommendations for these children.

11.
J Clin Endocrinol Metab ; 108(12): e1720-e1730, 2023 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-37267430

RESUMO

CONTEXT: Prader-Willi syndrome (PWS) is a complex disorder combining hypothalamic dysfunction, neurodevelopmental delay, hypotonia, and hyperphagia with risk of obesity and its complications. PWS is caused by the loss of expression of the PWS critical region, a cluster of paternally expressed genes on chromosome 15q11.2-q13. As life expectancy of patients with PWS increases, age-related diseases like malignancies might pose a new threat to health. OBJECTIVE: To investigate the prevalence and risk factors of malignancies in patients with PWS and to provide clinical recommendations for cancer screening. METHODS: We included 706 patients with PWS (160 children, 546 adults). We retrospectively collected data from medical records on past or current malignancies, the type of malignancy, and risk factors for malignancy. Additionally, we searched the literature for information about the relationship between genes on chromosome 15q11.2-q13 and malignancies. RESULTS: Seven adults (age range, 18-55 years) had been diagnosed with a malignancy (acute lymphoblastic leukemia, intracranial hemangiopericytoma, melanoma, stomach adenocarcinoma, biliary cancer, parotid adenocarcinoma, and colon cancer). All patients with a malignancy had a paternal 15q11-13 deletion. The literature review showed that several genes on chromosome 15q11.2-q13 are related to malignancies. CONCLUSION: Malignancies are rare in patients with PWS. Therefore, screening for malignancies is only indicated when clinically relevant symptoms are present, such as unexplained weight loss, loss of appetite, symptoms suggestive of paraneoplastic syndrome, or localizing symptoms. Given the increased cancer risk associated with obesity, which is common in PWS, participation in national screening programs should be encouraged.


Assuntos
Adenocarcinoma , Síndrome de Prader-Willi , Adolescente , Adulto , Criança , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Pai , Hiperfagia , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/diagnóstico , Síndrome de Prader-Willi/epidemiologia , Estudos Retrospectivos
12.
Clin Investig Arterioscler ; 35(6): 263-271, 2023.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37236829

RESUMO

AIMS: Limited data exist on low-density lipoprotein-cholesterol (LDL-C) level variability or long-term persistence with the monoclonal antibody evolocumab in routine clinical practice. HEYMANS (NCT02770131) is the first multi-country, multicenter, observational study of European patients initiating evolocumab as part of their routine clinical management, based on local reimbursement criteria (overall data recently published). The aim of this analysis is to describe clinical characteristics, baseline and changes in LDL-C levels, treatment patterns and persistence to evolocumab over 30 months in the Spanish cohort using data from the HEYMANS Registry. METHODS: HEYMANS was a prospective study of adult patients (≥18 years) who received at least one dose of evolocumab. A total of 1951 patients were enrolled from 12 countries and were followed up for 30 months after evolocumab initiation. Data were collected for 6 months before evolocumab initiation and up to 30 months thereafter. The Spanish cohort included patients who started evolocumab in routine clinical practice from March 2016 to September 2019. Demographic and clinical characteristics, lipid-lowering therapies (LLT), and lipid levels were collected. RESULTS: In total, 201 patients were included in the Spanish cohort. Median follow-up (Q1-Q3) was 30.0 (12-30) months. A total of 61.7% of patients were men and the mean (standard deviation) age was 59.5 (10.8) years. Most patients (68.7%) had experienced a prior cardiovascular event, 45.3% had coronary artery disease or stable angina, and 60.2% had a diagnosis of familial hypercholesterolemia. Overall, 57.7% of patients were receiving treatment with statins, most of them with high-intensity statins (85.3%); 45.8% of patients were intolerant to statins, and 26.4% of patients did not receive any LLT. At baseline, median (Q1-Q3) LDL-C levels were 151 (123-197) mg/dL. After 3 months of treatment, baseline LDL-C decreased by 66% to a median of 50 (30-83) mg/dL and these levels were maintained over time, with a median LDL-C of 55 (40-99) mg/dL at 30 months. At months 10-12 of treatment, LDL-C levels<55mg/dL were achieved by 56.3% of patients. LDL-C levels<70mg/dL were achieved by 70.1% of patients, and a lowering of LDL-C levels ≥50% was achieved by 76.8% of patients. The percentage of patients on evolocumab treatment was 95% at 12 months and 93% at 30 months. CONCLUSIONS: In the Spanish cohort in routine clinical practice, evolocumab therapy provided a reduction in LDL-C levels consistent with that reported in previous clinical trials, which was sustained during 30 months of follow-up. Treatment with evolocumab was started at LDL-C levels 50% higher than those recommended by The Spanish Society of Arteriosclerosis and the Therapeutic Positioning Report. The probability of achieving the 2019 ESC/EAS LDL-C goals would improve with combination therapy and also with a lower LDL-C threshold when starting evolocumab. Persistence to evolocumab remained high during follow-up, with a very low percentage of discontinuation (5% at 12 months; 7% at 30 months).


Assuntos
Anticolesterolemiantes , Inibidores de Hidroximetilglutaril-CoA Redutases , Masculino , Adulto , Humanos , Pessoa de Meia-Idade , Feminino , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Estudos Prospectivos , LDL-Colesterol , Inibidores de PCSK9
13.
J Clin Med ; 12(3)2023 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-36769803

RESUMO

Prader-Willi syndrome (PWS) is a genetic disorder produced by a lack of expression of paternally derived genes in the 15q11-13 region. Research has generally focused on its genetic and behavioral expression, but only a few studies have examined epigenetic influences. Prenatal testosterone or the maternal testosterone-to-estradiol ratio (MaTtEr) has been suggested to play an important role in the development of the 'social brain' during pregnancy. Some studies propose the 2D:4D digit ratio of the hand as an indirect MaTtEr measure. The relationship between social performance and MaTtEr has been studied in other neurodevelopmental conditions such as Autism Spectrum Disorder (ASD), but to our best knowledge, it has never been studied in PWS. Therefore, our study aims to clarify the possible existence of a relationship between social performance-as measured using the Social Responsiveness Scale (SRS)-and MaTtEr levels using the 2D:4D ratio. We found that, as a group, PWS individuals have shorter index and ring fingers than the control group, but no significant difference in the 2D:4D ratios. The 2D:4D ratio showed a correlation only with Restricted Interests and Repetitive Behavior Subscale, where a positive correlation only for male individuals with PWS was found. Considering only PWS with previous GH treatment during childhood/adolescence (PWS-GH), index and ring fingers did not show differences in length with the control group, but the 2D:4D ratio was significantly higher in the right or dominant hand compared to controls.

15.
J Clin Endocrinol Metab ; 108(1): 59-84, 2022 12 17.
Artigo em Inglês | MEDLINE | ID: mdl-36149817

RESUMO

CONTEXT: Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity. OBJECTIVE: To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS. METHODS: We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature. RESULTS: We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below -2.5) and 143 (54%) had osteopenia (T-score -1 to -2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified. CONCLUSION: Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients.


Assuntos
Fraturas Ósseas , Hipogonadismo , Osteoporose , Síndrome de Prader-Willi , Escoliose , Humanos , Adulto , Masculino , Feminino , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/epidemiologia , Síndrome de Prader-Willi/tratamento farmacológico , Densidade Óssea , Escoliose/etiologia , Escoliose/complicações , Hipotonia Muscular , Estudos Retrospectivos , Osteoporose/etiologia , Osteoporose/complicações , Hipogonadismo/etiologia , Hipogonadismo/complicações , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/etiologia , Hormônio do Crescimento/uso terapêutico
16.
Front Endocrinol (Lausanne) ; 13: 909201, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35898446

RESUMO

Objective: Obesity is characterized by a low-grade inflammatory state in adipose tissue. Tumor Necrosis Factor Weak Inducer of Apoptosis (TWEAK) and Cluster of Differentiation 163 (CD163) are cytokines potentially involved in the pathogenesis of obesity. Little is known about them in children. The aim of this study was to observe serum levels of TWEAK and CD163 in prepubertal children with obesity compared to lean, and to evaluate its changes after a 2-year intervention program in children with obesity. Methods: Case-control study with a prospective follow-up of cases for 2 years in a referral pediatric endocrine outpatient centre. Seventy-three prepubertal children with obesity, and forty-seven age- and gender-matched lean controls were studied. Sixty-two cases finished the program. Anthropometric parameters, Homeostatic Model Assessment for Insulin Resistance (HOMA-IR), lipid profile, and concentrations of TWEAK and CD163 were determined. Children with obesity were re-evaluated after a 2-year intervention program consisting of diet and exercise. Weight loss was considered if z-score Body Mass Index (BMI) decreased at least 0.5 Standard Deviations (SD). Results: We observed higher CD163 levels in children with obesity compared to controls. No significant differences were observed in TWEAK and CD163/TWEAK ratio at baseline. After the 2-year intervention program, TWEAK levels were higher and CD163/TWEAK ratio was lower in children with weight loss than those without weight loss. CD163 decreased in both groups. Conclusion: TWEAK and CD163 seem to have a role in the pathogenesis of obesity in prepubertal children.


Assuntos
Citocina TWEAK/metabolismo , Citocinas , Obesidade Infantil , Antígenos CD , Antígenos de Diferenciação Mielomonocítica , Estudos de Casos e Controles , Criança , Humanos , Obesidade Infantil/terapia , Estudos Prospectivos , Receptores de Superfície Celular , Redução de Peso
17.
J Clin Med ; 11(7)2022 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-35407437

RESUMO

We compared body composition, biochemical parameters, motor function, and brain neural activation in 27 adults with Prader-Willi syndrome and growth-hormone deficiency versus age-and sex-matched controls and baseline versus posttreatment values of these parameters after one year of recombinant human growth hormone (rhGH) treatment. To study body composition, we analyzed percentage of fat mass, percentage of lean mass, and muscle-mass surrogate variables from dual X-ray absorptiometry. Biochemical parameters analyzed included IGF-I, glucose metabolism, and myokines (myostatin, irisin, and IL6). To explore muscle function, we used dynamometer-measured handgrip strength, the Timed Up and Go (TUG) test, and the Berg Balance Scale (BBS). To study brain activation, we acquired functional magnetic resonance images during three motor tasks of varying complexity. After one year of treatment, we observed an increase in lean mass and its surrogates, a decrease in fat mass, improvements in TUG test and BBS scores, and increased neural activation in certain cerebellar areas. The treatment did not significantly worsen glucose metabolism, and no side-effects were reported. Our findings support the benefits of rhGH treatment in adults with Prader-Willi syndrome and growth-hormone deficiency on body composition and suggest that it may also improve balance and brain neural activation.

19.
J Clin Med ; 11(6)2022 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-35329918

RESUMO

BACKGROUND: Prader-Willi Syndrome (PWS) is a genetically based neurodevelopmental disease characterized by obesity, hyperphagia, and mild to moderate intellectual disability. Treatment with growth hormone (GH) could provide cognitive benefits. The objective of the present study was to compare the cognitive and adaptive performance of 31 patients with genetically confirmed PWS grouped in two cohorts, one treated with GH before 2 years old (Group 1) and the other receiving the treatment later (Group 2). METHOD: We compared two variables necessary to diagnose intellectual disability: intellectual performance, using the Weschler scales, and adaptive behavior, using the DABS scale. The scores were analyzed by means of non-parametric statistical tests. RESULTS: Group 1 (n = 10) obtained higher and statistically significant scores in Total Intelligence Quotient (TIQ), General Ability Index (GAI), and General Adaptive Behavior (GAB), implying better cognitive and adaptive performance compared to Group 2. CONCLUSIONS: Treatment with GH should be administered in the early stage of development (before 2 years old) to obtain greater benefits at the cognitive and adaptive levels.

20.
J Clin Med ; 11(5)2022 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-35268524

RESUMO

Although various studies have investigated symptoms of autism spectrum disorder (ASD) in Prader−Willi syndrome (PWS), little is known about the consequences of these symptoms, especially in psychosocial function. We aimed to explore ASD symptoms in adults with PWS with special attention to psychosocial functionality. This cross-sectional study included 26 adults (15 women) with PWS who attended a reference unit for rare diseases. Participants' primary caregivers completed the Social Responsiveness Scale (SRS), and clinicians assessed multidimensional functioning with the Personal and Social Performance Scale (PSP). Impaired social responsiveness was identified in 20 (76.9%) participants, and manifest to marked difficulties in social functioning were identified in 13 (50%). Participants with impaired social responsiveness (SRS ≥ 60) had significantly worse scores in functionality measured with the PSP (U = 12.5; p = 0.009) and with three of the four PSP main areas. Moreover, scores for the Social Cognition domain of the SRS correlated positively with the Socially useful activities (p < 0.05) and Personal and social relationships (p < 0.01) main areas of the PSP. These results suggest that difficulties in social skills should be assessed in all psychosocial evaluations of patients with PWS.

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