Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

Abstract Background Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited deficiency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live births. The clinical course and disease progression are widely heterogeneous, but most patients have been reported to show signs such as skeletal deformities or cognitive delay. Additionally, detection criteria are not standardized, resulting in delayed diagnosis and treatment. Methods We present a cohort of 9 patients with mucopolysaccharidosis VII diagnosed in the Iberian Peninsula, either in Spain or Portugal. The diagnostic approach, genetic studies, clinical features, evolution and treatment interventions were reviewed. Results We found that skeletal deformities, hip dysplasia, hydrops fetalis, hepatosplenomegaly, hernias, coarse features, respiratory issues, and cognitive and growth delay were the most common features identified in the cohort. In general, patients with early diagnostic confirmation who received the appropriate treatment in a timely manner presented a more favorable clinical evolution. Conclusions This case series report helps to improve understanding of this ultra-rare disease and allows to establish criteria for clinical suspicion or diagnosis, recommendations, and future directions for better management of patients with Sly syndrome.

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Esophageal Atresia and Associated Duodenal Atresia: A Cohort Study and Review of the Literature

European Journal of Pediatric Surgery ◽

10.1055/s-0040-1716884 ◽

2020 ◽

Author(s):

Maria Enrica Miscia ◽

Giuseppe Lauriti ◽

Dacia Di Renzo ◽

Angela Riccio ◽

Gabriele Lisi ◽

...

Keyword(s):

Cohort Study ◽

Esophageal Atresia ◽

Primary Repair ◽

English Literature ◽

Delayed Diagnosis ◽

Case Series ◽

Primary Treatment ◽

Duodenal Atresia ◽

Staged Approach ◽

Missed Diagnosis

Abstract Introduction Esophageal atresia (EA) is associated with duodenal atresia (DA) in 3 to 6% of cases. The management of this association is controversial and literature is scarce on the topic. Materials and Methods We aimed to (1) review the patients with EA + DA treated at our institution and (2) systematically review the English literature, including case series of three or more patients. Results Cohort study: Five of seventy-four patients with EA had an associated DA (6.8%). Four of five cases (80%) underwent primary repair of both atresia, one of them with gastrostomy placement (25%). One of five cases (20%) had a delayed diagnosis of DA. No mortality has occurred. Systematic Review: Six of six-hundred forty-five abstract screened were included (78 patients). Twenty-four of sixty-eight (35.3%) underwent primary correction of EA + DA, and 36/68 (52.9%) underwent staged correction. Nine of thirty-six (25%) had a missed diagnosis of DA. Thirty-six of sixty-eight underwent gastrostomy placement. Complications were observed in 14/36 patients (38.9 ± 8.2%). Overall mortality reported was 41.0 ± 30.1% (32/78 patients), in particular its incidence was 41.7 ± 27.0% after a primary treatment and 37.0 ± 44.1% following a staged approach. Conclusion The management of associated EA and DA remains controversial. It seems that the staged or primary correction does not affect the mortality. Surgeons should not overlook DA when correcting an EA.

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Amnion‐Chorion Membrane in Open‐Wound Approach for Localized Horizontal Ridge Augmentation: A Case Series Report

Clinical Advances in Periodontics ◽

10.1002/cap.10144 ◽

2020 ◽

Author(s):

Shan‐Huey Yu ◽

Tae‐Ju Oh ◽

Hom‐Lay Wang ◽

Hsun‐Liang Chan

Keyword(s):

Case Series ◽

Open Wound ◽

Ridge Augmentation ◽

Case Series Report ◽

Series Report

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Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil

Viruses ◽

10.3390/v13010001 ◽

2020 ◽

Vol 13 (1) ◽

pp. 1

Author(s):

Andréia Veras Gonçalves ◽

Demócrito de B. Miranda-Filho ◽

Líbia Cristina Rocha Vilela ◽

Regina Coeli Ferreira Ramos ◽

Thalia V. B. de Araújo ◽

...

Keyword(s):

Optic Nerve ◽

Viral Infections ◽

Case Series ◽

Optic Nerve Hypoplasia ◽

Endocrine Dysfunction ◽

Careful Monitoring ◽

Early Puberty ◽

Growth Impairment ◽

Appropriate Treatment ◽

The Brain

Congenital viral infections and the occurrence of septo-optic dysplasia, which is a combination of optic nerve hypoplasia, abnormal formation of structures along the midline of the brain, and pituitary hypofunction, support the biological plausibility of endocrine dysfunction in Zika-related microcephaly. In this case series we ascertained the presence and describe endocrine dysfunction in 30 children with severe Zika-related microcephaly from the MERG Pediatric Cohort, referred for endocrinological evaluation between February and August 2019. Of the 30 children, 97% had severe microcephaly. The average age at the endocrinological consultation was 41 months and 53% were female. The most frequently observed endocrine dysfunctions comprised short stature, hypothyroidism, obesity and variants early puberty. These dysfunctions occurred alone 57% or in combination 43%. We found optic nerve hypoplasia (6/21) and corpus callosum hypoplasia (20/21). Seizure crises were reported in 86% of the children. The most common—and clinically important—endocrine dysfunctions were pubertal dysfunctions, thyroid disease, growth impairment, and obesity. These dysfunctions require careful monitoring and signal the need for endocrinological evaluation in children with Zika-related microcephaly, in order to make early diagnoses and implement appropriate treatment when necessary.

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Impact of SARS-COV-2 Pandemic on Kidney Cancer Management

Kidney Cancer ◽

10.3233/kca-210112 ◽

2021 ◽

pp. 1-14

Author(s):

Melissa Bersanelli ◽

Camillo Porta

Keyword(s):

Survival Rates ◽

Delayed Diagnosis ◽

Case Series ◽

Cost Benefit ◽

Original Data ◽

Immune Checkpoint Blockade ◽

Retrospective Case ◽

Renal Masses ◽

Term Survival ◽

Cancer Management

Background: The SARS-CoV-2 pandemic still has a huge impact on the management of many chronic diseases such as cancer. Few data are presently available reagarding how the management of renal cell carcinoma (RCC) has changed due to this unprecedented situation. Objective: To discuss the challenges and issues of the diagnosis and treatment of RCC in the COVID-19 era, and to provide recommendations based on the collected literature and our personal experience. Methods: Systematic review of the available Literature regarding the management of RCC during the SARS-CoV-2 pandemic. Results: Our review showed a prevalence of narrative publications, raising the issue of the real relevance of the evidence retrieved. Indeed, the only original data about RCC and COVID-19 found were a small retrospective case series and two surveys, providing either patients’ or physicians’ viewpoints. Conclusions: The expected delayed diagnosis of RCC could lead to an increase of advanced/metastatic cases; thus, proper therapeutic choices for patients with small renal masses should be carefully evaluated case by case, in order to avoid negative effects on long-term survival rates. The controversial interaction between immune checkpoint blockade and COVID-19 pathogenesis is more hypothetical than evidence-based, and thus immunotherapy should not be denied, whenever appropriate. To avoid treatments which won’t have an impact on patients’ survival, a honest and accurate evaluation of the cost/benefit ratio of each treatment option should be always performed. Finally, SARS-CoV-2 swab positivity should not prevent the continuation of ongoing active treatments in asymptomatic cases, or or after symptoms’ resolution.

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Basal ganglia echogenicity in preterm infants: A case series

Journal of Neonatal-Perinatal Medicine ◽

10.3233/npm-190390 ◽

2020 ◽

pp. 1-5

Author(s):

S. Harvey ◽

S. Ryan ◽

A. Tarrant ◽

M. King ◽

B. Hayes

Keyword(s):

Basal Ganglia ◽

Clinical Course ◽

Case Series ◽

Abnormal Development ◽

Cranial Ultrasound ◽

Perinatal Factors ◽

Mri Brain ◽

Developmental Progress ◽

Cognitive Delay ◽

History Of

BACKGROUND: Damage to the basal ganglia and thalamus (BGT) can be caused by multiple perinatal factors and may be associated with movement disorders, cognitive delay and visual difficulties. Changes in BGT structure, seen as echogenicity on ultrasound, are difficult to objectively quantify. The aetiology, clinical relevance and developmental outcomes of BGT echogenicity are poorly understood. We aimed to gain a better understanding of the natural history of BGT echogenicity in a preterm population. METHODS: Retrospective review of clinical course, neuroimaging and development in infants born <32weeks gestation over 5 years with evidence of BGT echogenicity. RESULTS: BGT echogenicity was reported in 18/650 infants (2.7%). Echogenicity appeared at a median of 8 days (2–45 days) and resolved on pre-discharge ultrasound in 50%. Thirteen infants had a term corrected MRI brain with abnormal BGT signal seen in 3 infants (23%). All 3 infants had persisting echogenicity on discharge ultrasound. No infant with echogenicity resolution on ultrasound had changes on term MRI. 14 infants had developmental progress available at 1 year corrected. Abnormal development was reported in four children of whom one had BGT changes on term MRI. Two children with persistent BGT changes but an otherwise normal MRI had reported normal neurodevelopment. CONCLUSION: BGT echogenicity is relatively common on routine ultrasound and resolves in the majority of infants by term corrected. This review suggests that at term corrected, normal cranial ultrasound may obviate the need for MRI where no other concerns exist. BGT echogenicity did not appear to independently influence neurodevelopment.

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Cryoprobe biopsy for the diagnosis of acute hypoxemic respiratory failure of undetermined origin

Journal of the Intensive Care Society ◽

10.1177/1751143719847323 ◽

2019 ◽

Vol 21 (2) ◽

pp. 119-123

Author(s):

Marcos J Las Heras ◽

Jose Dianti ◽

Manuel Tisminetzky ◽

Graciela Svetliza ◽

Sergio E Giannasi ◽

...

Keyword(s):

Respiratory Failure ◽

Diagnostic Yield ◽

Specific Treatment ◽

Case Series ◽

Safe Procedure ◽

Hypoxemic Respiratory Failure ◽

Acute Hypoxemic Respiratory Failure ◽

Select Group ◽

Lung Sample ◽

Appropriate Treatment

Rationale Acute hypoxemic respiratory failure is a condition that comprises a wide array of entities. Obtaining a histological lung sample might help reach a diagnosis and direct an appropriate treatment in a select group of patients. Objective To describe our experience in the use of cryobiopsy for the diagnosis of acute hypoxemic respiratory failure of undetermined origin. Methods Retrospective analysis of case series of patients with acute hypoxemic respiratory failure who underwent lung cryobiopsy at the Intensive Care Unit of the Hospital Italiano de Buenos Aires, Argentina. Results Cryobiopsy yielded a histological diagnosis in all patients ( n = 10, 100%). This led to either a change in therapy or continuation of a specific treatment in eight of these patients. Cryobiopsy was found to be contributive in all the patients who did not meet Berlin criteria for acute respiratory distress syndrome. No major complications were associated with the procedure. Conclusions Cryobiopsy is a safe procedure with a high diagnostic yield in a selected group of patients.

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