Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.

BACKGROUND: Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the septum pellucidum and corpus callosum dysgenesis. The variable presentation of SOD includes visual, neurologic, and/or hypothalamic-pituitary endocrine defects. The unclear aetiology of a large proportion of SOD cases underscores the importance of identifying novel SOD-associated genes. CASE PRESENTATION: To identify the disease-causing gene in a male infant with neonatal hypoglycaemia, dysmorphic features, and hypoplasia of the optic nerve and corpus callosum, we designed a targeted next-generation sequencing panel for brain morphogenesis defects. We identified a novel hemizygous deletion, c.6355 + 4_6355 + 5delAG, in intron 38 of the FLNA gene that the patient had inherited from his mother. cDNA studies showed that this variant results in the production of 3 aberrant FLNA transcripts, the most abundant of which results in retention of intron 38 of FLNA. CONCLUSIONS: We report for the first time a case of early-onset SOD associated with a mutation in the FLNA gene. This finding broadens the spectrum of genetic causes of this rare disorder and expands the phenotypic spectrum of the FLNA gene.

[Infection by SARS-CoV-2 in pregnancy and possibility of transmission to neonates: A systematic revision]. / Infección por SARS-CoV-2 en el embarazo y posibilidad de transmisión al neonato: una revisión sistemática.

Studies published on COVID-19, pregnancy and neonate disease until 30 April 2020 are revised. We found 33 articles including 553 pregnant women and 456 deliveries. The more frequent symptoms in the pregnant women were fever, cough and dyspnoea. About two thirds deliveries were carried out via Caesarean rate; 5.9% women were admitted in the ICU and 4% required mechanic ventilation. No maternal death was reported. Prematurity occurred in 22.3% deliveries and 38.3% neonates required admission in the ICU. Only one neonatal death was reported (0.4%) and 13 neonates (3.4%) suffered COVID-19. The available information does not allow to state whether transmission to neonates occurred transplacentarily.

[Results of the implementation of a protocol for outpatient management of the paediatric patient with tuberculosis]. / Resultados de la implantación de un protocolo para el manejo ambulatorio del paciente pediátrico con enfermedad tuberculosa.

OBJECTIVE: To assess the results of the implementation of a protocol for the outpatient management of paediatric patients with tuberculosis, and to compare it with the previous approach. MATERIAL AND METHODS: All patients younger than 14 years of age diagnosed with tuberculosis in Cantabria between 2005 and 2014 were included in the study. The pre-implementation period included patients admitted for gastric aspirate collection and to start treatment until 2010 (Pre-group). The post-implementation period was from 2010 onwards, using a protocol established for the outpatient management of these patients, with admission only being for clinical or social reasons, post-implantation period (Post-group). RESULTS: A total of 82 patients were studied: 29 from the Pre-group and 53 from Post-group. The median age was 61 months (IQR 32.5-97.75). All patients in the Pre-group were systematically admitted, compared to 26.4% of the Post-group (P<.001). The mean hospital stay was higher (7.27±7.1 days) in the Pre-group than in Post-group (3.4±11.46 days) (P<.0001). Only in 6.9% of patients from Pre-group were the 3 microbiological samples recommended for diagnosis following the international guidelines were provided, whereas they were provided by 73.58% patients from Post-group (P<.001). Of the cultures performed, 26.6% were positive for Mycobacterium tuberculosis, 37.5% of the Pre-group and 21.6% of the Post-group (P=.121). No significant differences were observed between the groups in other parameters related to treatment such as, therapeutic adherence, treatment not adjusted to the guidelines, treatment withdrawal or relapse.. DISCUSSION: Although guidelines recommend three microbiological samples for culture, no superior microbiological isolation was detected despite the increased number of samples collected. The management in hospital clinics of patients with suspected tuberculosis with stable clinical situation show similar or better clinical and microbiological results to the previous management, with lower hospital admission rate and with the subsequent cost savings.

[Description of tuberculosis outbreak and usefulness of mediastinal ultrasound]. / Descripción de un brote de tuberculosis y utilidad de la ecografía mediastínica.

OBJECTIVES: Describe a school outbreak of tuberculosis and compare the features with other outbreaks. Propose mediastinal ultrasound as an aid in its diagnosis and monitoring. PATIENTS AND METHODS: Retrospective descriptive study of the transmission of tuberculosis infection in a micro-epidemic. Infection criteria: Mantoux ≥ 5mm, asymptomatic patient, with normal radiological, microbiological and analytical studies. Disease criteria: Mantoux ≥ 5mm and any of the above pathological studies. Mediastinal ultrasound was used as a complementary method of chest radiography (CXR). Computed tomography (CT) as the combined result of ultrasound and CXR was inconclusive. RESULTS: Seventeen out of 412 students were infected and 16 with tuberculosis disease. In addition, 4 out-school contacts were diagnosed of tuberculosis. CLINICAL MANIFESTATIONS: one erythema nodosum, one Henoch-Schönlein purpura, twelve with cough and fever nine. CXR results in patients: 3 normal, 7 inconclusive, and 10 with the following findings: 2 pneumonia, 2 pulmonary atelectasis, 2 primary complexes, 4 patients only with lymphadenopathy. All patients with normal or indeterminate CXR showed mediastinal lymphadenopathy visualized on ultrasound but 3 demonstrated by CT. Microbiological isolation: 6 cases (31%). CONCLUSIONS: The number of infected patients was higher compared to other outbreaks There is great variability in the diagnostic approach to tuberculosis micro-epidemics. It is complex to differentiate between infection and disease. The clinical, laboratory and CXR are nonspecific. There are patients with normal CXR, pathological ultrasound and microbiological isolation. Mediastinal ultrasound can play an important role in the diagnosis and management of tuberculosis disease.

PI SZ phenotype in chronic obstructive pulmonary disease.

BACKGROUND: A study was undertaken to clarify whether the PI SZ phenotype of the protease inhibitor system predisposes to chronic obstructive pulmonary disease (COPD). METHODS: The prevalence of PI Z and PI SZ deficient phenotypes was investigated in a population of 702 patients with COPD followed up at the Chest Unit of a tertiary hospital and in 15400 newborn infants from the same geographical area. Individuals with deficiency were detected by screening of dried blood spots on filter paper using a comparative electro-immunodiffusion technique for alpha 1-antitrypsin and transferrin. The serum phenotype was confirmed by means of isoelectrofocusing on polyacrylamide gel. RESULTS: Of the 702 blood samples from patients with COPD, six PI Z subjects (0.85%) and one PI SZ (0.14%) were detected. Of the 15400 samples from neonates, the number of PI Z subjects was eight (0.052%) and that of PI SZ was 24 (0.156%). The difference between the two groups was significant for PI Z but not for PI SZ. CONCLUSIONS: The data do not indicate an increased risk for development of COPD associated with the PI SZ phenotype but confirm the predisposition of PI Z individuals for the development of COPD.