Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.

Key Clinical Message: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations. Abstract: A 9-month-old boy presented to our department for evaluation of developmental delay. We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous), Angelman syndrome (5,5 Mb deletion of 15q11.2-q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous).

Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.

BACKGROUND: We aim to describe a cohort of patients with KCNQ2-related epilepsy and evaluate the relationship between epileptic activity and developmental outcome. This topic is relevant for the selection of clinical end points in future clinical trials, since cessation of seizures may or may not be the most important outcome. METHODS: This retrospective cohort study of children with self-limited (familial) neonatal epilepsy and developmental and epileptic encephalopathy due to pathogenic variants in KCNQ2 was conducted between 2019 and 2021. We collected clinical, therapeutic, and genetic information. Available electroencephalographic recordings were reviewed by a neurophysiologist. Gross motor function was determined using the Gross Motor Function Classification System (GMFCS). The Vineland Adaptive Behavior Composite standard score (ABC SS) was used to measure adaptive functioning. RESULTS: Among 44 children (mean age 8.1 ± 4.0 years, 45.5% were male), 15 of 44 had S(F)NE, and 29 of 44 had DEE. Delayed seizure freedom was more frequent in DEE than in S(F)NE (P = 0.025), but no correlation was observed between age at seizure freedom and developmental outcome in patients with DEE. Multifocal interictal epileptiform abnormalities at epilepsy onset were more frequent in DEE than in S(F)NE (P = 0.014), and were associated with higher GMFCS (P = 0.027) and lower ABC SS (P = 0.048) in patients with DEE. Disorganized background activity at follow-up was more frequent in DEE than in S(F)NE (P = 0.001), and was associated with higher GMFCS levels (P = 0.009) and lower ABC SS (P = 0.005) in patients with DEE. CONCLUSIONS: This study shows a partial correlation between epileptic activity and developmental outcome in KCNQ2-related epilepsy.

Data analytics for predicting quality of life changes in head and neck cancer survivors: a scoping review.

Head and neck cancer is the seventh most common cancer worldwide. The incidence of this cancer is increasing, but at the same time, the cancer-related mortality rate has decreased over time, leaving more head and neck cancer survivors. More emphasis is needed on quality-of-life research in the head and neck cancer field to improve their daily lives and reduce the disease and treatment response burden. To achieve this, we conducted a scoping review to find and learn which predictors and data analysis techniques have been used in previous studies. This work is undertaken in the context of the BD4QoL EU Research project.

What Do Patients Want? A Qualitative Analysis of Patient, Provider, and Administrative Perceptions and Expectations About Patients' Hospital Stays.

Patient experience is increasingly recognized as a measure of health care quality and patient-centered care and is currently measured through the Hospital Consumer Assessment of Healthcare Providers and Systems (HCAHPS). The HCAHPS survey may miss key factors important to patients, and in particular, to underserved patient populations. We performed a qualitative study utilizing semi-structured interviews with 45 hospitalized English- and Spanish-speaking patients and 6 focus groups with physicians, nurses, and administrators at a large, urban safety-net hospital. Four main themes were important to patients: (1) the hospital environment including cleanliness and how hospital policies and procedures impact patients' perceived autonomy, (2) whole-person care, (3) communication with and between care teams and utilizing words that patients can understand, and (4) responsiveness and attentiveness to needs. We found that several key themes that were important to patients are not fully addressed in the HCAHPS survey and there is a disconnect between what patients and care teams believe patients want and what hospital policies drive in the care environment.

Descompensación distal postoperatoria (DDP) en curvas lenke 1a tratadas con tornillos pediculares: una revisión de 63 casos / Descompensação distal pós-operatória (DDP) em curvaturas lenke 1a tratadas com parafusos pediculares: análise de 63 casos / Postoperative distal decompensation (PDD) in lenke 1a curvatures treated with pedicular screws: analysis of 63 cases

OBJETIVO: Identificar los factores de riesgo de descompensación distal postoperatoria (D.D.P.) y definir una estrategia quirúrgica segura en curvas tipo Lenke 1A tratadas con tornillos pediculares. MÉTODO: Estudio radiológico retrospectivo de 63 pacientes con escoliosis Lenke 1A, con un seguimiento mínimo de un año. Se evaluó, edad, sexo, grados Cobb, signo de Risser, relación de la vértebra distal instrumentada (V.D.I.) con la vértebra distal de la curva (V.D.), vértebra estable (V.E.) y con la vértebra, cuya distancia a la línea central vertical al sacro (L.V.S.) era superior a 10 mm "distancia vertebral" (D.V.). RESULTADOS: 8 casos (12,7%) desarrollaron D.D.P. El signo de Risser fue 0 en 2 pacientes (25%) y I en 2 pacientes (25%). Relación de V.D.I. con V.D.: 4 pacientes (50%) mismo nivel (V.D. +0), 4 pacientes (50%) un nivel caudal (V.D. (+1); relación V.D.I. con V.E.: 5 pacientes (62,5%) 2 niveles cefálicos (V.E -2), 3 pacientes (37,5%) 1 nivel cefálico (V. E.-1); relación V.D.I. con D.V.: 5 pacientes (62,5%) un nivel cefálico D.V. (-1), 3 pacientes mismo nivel (D.V.+ 0). CONCLUSIONES: Riesgo de descompensación distal postoperatoria: V.D.I. mismo nivel V.D. (V.D. + 0), 2 niveles cefálicos V.E. (V.E.-2), 1 nivel cefálico D.V. (D.V. -1). Estrategia quirúrgica curvas Lenke 1A: V.D.I: 1/2 niveles caudales a V.D. (V.D. +1/+2), un nivel cefálico a V.E. (V.E -1), mismo nivel D.V. (D.V. +0).

OBJETIVO: Identificar os fatores de risco de descompensação distal pós-operatória (DDP) e definir estratégia cirúrgica de segurança em curvaturas de Lenke 1A, tratadas com parafusos pediculares. MÉTODO: Estudo radiológico retrospectivo de 63 pacientes com escoliose Lenke 1A, com acompanhamento mínimo de um ano. Os parâmetros avaliados foram idade, sexo, graus do ângulo de Cobb, sinal de Risser, relação da vértebra distal instrumentada (VDI) com a vértebra distal da curvatura (VD), com a vértebra estável (VE) e com a vértebra cuja distância da linha central vertical até o sacro (LVS) era superior a 10 mm de "distância vertebral" (DV). RESULTADOS: 8 casos (12,7%) desenvolveram DDP. O sinal de Risser foi 0 em 2 pacientes (25%) e 1 em 2 pacientes (25%). Relação VDI/VD: 4 pacientes (50%) mesmo nível (VD +0), 4 pacientes (50%) nível caudal (VD +1); relação VDI/VE: 5 pacientes (62,5%) 2 níveis cefálicos (VE -2), 3 pacientes (37,5%) 1 nível cefálico (VE -1); relação VDI/DV: 5 pacientes (62,5%) um nível cefálico DV (-1), 3 pacientes mesmo nível (DV +0). CONCLUSÕES: Risco de descompensação distal pós-operatória:VDI mesmo nível VD (VD +0), 2 níveis cefálicos VE (VE -2), 1 nível cefálico DV (DV -1). Estratégia cirúrgica nas curvaturas Lenke 1A: VDI: 1/2 níveis caudal até VD (VD +1/+2), um nível cefálico até VE (VE -1), mesmo nível DV (DV +0).

OBJECTIVE: To identify risk factors for postoperative distal decompensation (PDD) and safe surgical strategy in curvatures Lenke type 1A, treated with pedicle screws. METHOD: Retrospective radiographic study of 63 patients with scoliosis Lenke 1A, with follow-up of at least one year. The parameters evaluated were age, sex, degrees of Cobb's angle, Risser sign, relationship of distal instrumented vertebra (DIV) to the distal vertebra (DV) of the curvature, to the stable vertebra (SV) and to the vertebra which distance to the central vertical line to the sacrum (VLS) was greater than 10 mm of "vertebral distance" (VD). RESULTS: 8 cases (12.7%) developed DDP. The Risser sign was 0 in 2 patients (25%) and 1 in 2 patients (25%). DIV/DV relationship: 4 patients (50%) same level (DV +0), 4 patients (50%) caudal level (DV +1); DIV/SV ratio: 5 patients (62.5%) 2 cephalic levels (VD -2), 3 patients (37.5%) 1 cephalic level (SV -1); DIV/VD relationship: 5 patients (62.5%) 1 cephalic level (VD -1), 3 patients the same level (VD +0). CONCLUSIONS: Risk of postoperative distal decompensation: DIV same level DV (DV +0), 2 cephalic levels SV (SV -2), 1 cephalic level VD (VD -1). Surgical strategy in Lenke 1A curvatures: DIV: 1-2 levels caudal to DV (DV +1/+2), 1 cephalic level to SV (SV -1), the same level VD (VD +0).

Somatisation in primary care: experiences of primary care physicians involved in a training program and in a randomised controlled trial.

BACKGROUND: A new intervention aimed at managing patients with medically unexplained symptoms (MUS) based on a specific set of communication techniques was developed, and tested in a cluster randomised clinical trial. Due to the modest results obtained and in order to improve our intervention we need to know the GPs' attitudes towards patients with MUS, their experience, expectations and the utility of the communication techniques we proposed and the feasibility of implementing them. Physicians who took part in 2 different training programs and in a randomised controlled trial (RCT) for patients with MUS were questioned to ascertain the reasons for the doctors' participation in the trial and the attitudes, experiences and expectations of GPs about the intervention. METHODS: A qualitative study based on four focus groups with GPs who took part in a RCT. A content analysis was carried out. RESULTS: Following the RCT patients are perceived as true suffering persons, and the relationship with them has improved in GPs of both groups. GPs mostly valued the fact that it is highly structured, that it made possible a more comfortable relationship and that it could be applied to a broad spectrum of patients with psychosocial problems. Nevertheless, all participants consider that change in patients is necessary; GPs in the intervention group remarked that that is extremely difficult to achieve. CONCLUSION: GPs positively evaluate the communication techniques and the interventions that help in understanding patient suffering, and express the enormous difficulties in handling change in patients. These findings provide information on the direction in which efforts for improving intervention should be directed. TRIAL REGISTRATION: US ClinicalTrials.gov NCT00130988.