Pathophysiology and surgical treatment of spinal adhesive arachnoid pathology: patient series

BACKGROUND Spinal adhesive arachnoid pathology is a rare cause of myelopathy. Because of rarity and variability, mechanisms of myelopathy are unknown. The authors retrospectively analyzed patients to understand pathophysiology and provide implications for surgical treatment. OBSERVATIONS Nineteen consecutive patients were studied. Thirteen patients had a secondary pathology due to etiological disorders such as spinal surgery or hemorrhagic events. They received arachnoid lysis (4 patients), syringo-subarachnoid (S-S) shunt (8 patients) with or without lysis, or anterior decompression. Three of them developed motor deterioration after lysis, and 6 patients needed further 8 surgeries. Another 6 patients had idiopathic pathology showing dorsal arachnoid cyst formation at the thoracic level that was surgically resected. With mean follow-up of 44.3 months, only 4 patients with the secondary pathology showed improved neurological grade, whereas all patients with idiopathic pathology showed improvement. LESSONS The idiopathic pathology was the localized dorsal arachnoid adhesion that responded to surgical treatment. The secondary pathology produced disturbed venous circulation of the spinal cord by extensive adhesions. Lysis of the thickened fibrous membrane with preservation of thin arachnoid over the spinal veins may provide safe decompression. S-S shunt was effective if the syrinx extended to the level of normal subarachnoid space.

Simultaneous correction of congenital heart defect, atrial fibrillation and coronary artery disease in a 62‑year-old patient

Long-term, natural course of congenital heart defect often results in secondary hemodynamic and functional disorders in adult life. In such cases, first clinical manifestations are generally due to age-related accompanying or secondary pathology rather than with the defect itself. In the presence of concomitant ischemic heart disease (IHD), leading manifestations may be those of angina, which mask manifestations of the heart defect and complicate the diagnosis. Not infrequently in practice, patients refuse surgery in a younger age, which is usually due to their satisfactory condition and an absence of complaints. However, the wait and see tactics is not always justified since over time, hemodynamic disturbances progress, complications of the defect may develop, coronary arteries lesions join with age, and their correction requires an integrated approach. The presented clinical case describes a possibility of successful one-stage surgical correction of an atrial septal defect, tricuspid valve regurgitation, atrial fibrillation, and IHD in a 62-old female patient.

Secondary diseases of the thoracic organs in HIV-­infected patients of phthysiopulmonological profile: 5­-year observation (according to a highly specialized hospital)

Objective – to establish the spectrum of secondary pathology of the thoracic organs in HIV-infected patients of phthisiopulmonary profile with inpatient treatment in the last 5 years, taking into account the appointment of antiretroviral therapy (ART) and the level of CD4+ T-lymphocytes in peripheral blood. Materials and methods. A cohort retrospective study was carried out. The group included 434 indivi-duals who were hospitalized in the clinic of the SI «National Institute of Phthisiology and Pulmonology named after F.G. Yanovsky NAMN of Ukraine» in the period 2015—2019, with a confirmed diagnosis of HIV infection. Anamnestic, and clinical and laboratory data of patients were obtained from paper out patient and inpatient case histories, the electronic database of the Institute EMCIMED.Results and discussion. The data on the number of cases and the time of ART administration, the established CD4+ cell level, and final diagnoses of secondary diseases of various thoracic organs in hospitalized patients with HIV were analyzed and compared. On the whole, an unsatisfactory situation with the appointment of ART was established in accordance with the latest WHO and Ukrainian protocols on the medical management of people living with HIV. Surgical mini-invasive therapeutic and diagnostic manipulations and surgical interventions were performed in 183 (42.2 %) patients. Low levels of CD4 cells were determined in all patients, regardless of the type of established secondary disease. In 53.2 % of cases with various types of tuberculous lesions (lungs, pleura, peripheral lymph nodes) and when TB is combined with other secondary diseases, the level of CD4 T-lymphocytes was less than 200 cells/µL. In the spectrum of secondary diseases, TB of one or more organs of the thorax predominated, 75.8 % of cases. Among other secondary diseases, Pneumocystis pneumonia and lymphadenitis took the second and third places in the frequency of detection. Conclusions. In the structure of secondary diseases of thoracic organs among hospitalized patients with HIV infection in the last five years, as before, tuberculosis is in the lead. Among all patients with HIV and secondary diseases of the thorax organs, regardless of the type of diseases, cases with an average CD4-lymphocyte level less than 400 cells/µL prevailed.Only 53.0 % of patients received ART, and more than a third of them were prescribed ART during hospitalization at the Institute’s clinic. In another third of cases, specific therapy was not prescribed at all.

Evaluare și intervenție logopedică în contextul întârzierii în dezvoltarea limbajului

According to the literature, we are talking about a language delay when the child fails to reach the level of language evolution, compared to his chronological age. In fact, we know that language development is closely linked to cognitive development. Therefore, the structure of language is influenced by the degree of cognitive development. Knowing that the language delay may exists as a secondary pathology in most intellectual disabilities and can be recognized by the poverty of vocabulary, the inability to express themselves correctly in sentences or phrases, being reached phonetic, lexical and grammatical aspects, I wanted to surprise in this study the features of language development in young children oriented towards our school by proposing a complex, multidimensional approach to early assessment of language skills and capturing the effect of a multidimensional intervention program that will ultimately lead to the configuration of functional communication skills. Children included in this study are enrolled in the kindergarten group or in the preparatory class, aged between 4 and 8 years. These children are also diagnosed with mild or moderate intellectual disability. The program took place in two stages. In the first stage, a multidimensional evaluation was performed, on all sides of the language by applying tests, scales or evaluation tests. The results obtained by the children were interpreted and presented at the level of some case studies. In the second stage, we proposed an intervention program that aims to enrich and activate vocabulary, by applying the "50 word-list techniqueT⁵⁰", training phonetic and phonological skills, those related to structural semantics and lexical semantics and shaping morphological skills, which will lead to the configuration of a functional communication skill related to chronological and mental age.

РОЗРАХУНОК РИЗИКУ РОЗВИТКУ СЕРЦЕВО- СУДИННОЇ ПАТОЛОГІЇ, ЩО МАЄ ТРИВАЛИЙ ПЕРЕБІГ, У ПОСТРАЖДАЛОГО З БОЙОВОЮ ТРАВМОЮ: КЛІНІЧНИЙ ВИПАДОК

Combat activity in eastern Ukraine has shown dramatically different, compared to previous military campaigns, indicators of casualties, which substantiates the need to reform approaches to providing medical assistance to injured combatants. Pathology of internal organs, in particular the cardiovascular system, often accompanies combat trauma, worsens the process of recovery of the injured combatant, leads to his unfitness for military service, sometimes to disability. It is known that in about 20% of all injured combatants signs of secondary pathology of the cardiovascular system with various manifestations are presented. This percentage even reaches 95% among the seriously injured, who are treated at the intensive care units. Therefore, an important task for military medicine is the timely identification of high-risk group of patients among injured combatants in order to plan effective prevention measures. In 2018, a method for predicting the risk of developing secondary pathology of the cardiovascular system was developed and tested on the basis of a database of injured combatants from National Military Medical Clinical Center “Main Military Clinical Hospital”. We have tested this technique in a specific clinical case of an injured combatant with manifest signs of cardiovascular system abnormalities.

A Buford Complex in a Division I Collegiate American Football Player

A 19-year-old African-American male Division I collegiate American football player with no prior history of shoulder injury presented with right shoulder pain after making a tackle during a game. He was initially diagnosed with a rotator cuff strain with potential underlying labral pathology. Subsequent magnetic resonance imaging arthrogram showed no labral tearing, though a Buford complex was identified. A Buford complex is a normal anatomical labral variant where the anterior labrum is absent and the middle glenohumeral ligament is “cord-like” in structure. This case was managed conservatively since surgical intervention is only recommended if there is a secondary pathology to the shoulder (e.g., type II superior labrum anterior to posterior [SLAP] lesions). Clinicians should be aware of Buford complexes because they can predispose athletes to secondary injuries and can be managed successfully with a conservative rehabilitation approach in the absence of secondary pathology.

Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency

Background: Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a congenital rare metabolic disease with broad clinical phenotypes and variable evolution. This inborn error of metabolism is caused by mutations in the ETFA, ETFB or ETFDH genes, which encode for the mitochondrial ETF and ETF:QO proteins. A considerable group of patients has been described to respond positively to riboflavin oral supplementation, which constitutes the prototypic treatment for the pathology. Objectives: To report mutations in ETFA, ETFB and ETFDH genes identified in Portuguese patients, correlating, whenever possible, biochemical and clinical outcomes with the effects of mutations on the structure and stability of the affected proteins, to better understand MADD pathogenesis at the molecular level. Methods: MADD patients were identified based on the characteristic urinary profile of organic acids and/or acylcarnitine profiles in blood spots during newborn screening. Genotypic, clinical and biochemical data were collected for all patients. In silico structural analysis was employed using bioinformatic tools carried out in an ETF:QO molecular model for the identified missense mutations. Results: A survey describing clinical and biochemical features of eight Portuguese MADD patients was made. Genotype analysis identified five ETFDH mutations, including one extension (p.X618QextX*14), two splice mutations (c.34+5G>C and c.405+3A>T) and two missense mutations (ETF:QO-p.Arg155Gly and ETF:QO-p.Pro534Leu), and one ETFB mutation (ETFβ- p.Arg191Cys). Homozygous patients containing the ETFDH mutations p.X618QextX*14, c.34+5G>C and ETF:QO-p.Arg155Gly, all presented severe (lethal) MADD phenotypes. However, when any of these mutations are in heterozygosity with the known ETF:QO-p.Pro534Leu mild variant, the severe clinical effects are partly and temporarily attenuated. Indeed, the latter destabilizes an ETF-interacting loop, with no major functional consequences. However, the position 155 in ETF:QO is localized at the ubiquinone binding and membrane interacting domain, and is thus expected to perturb protein structure and membrane insertion, with severe functional effects. Structural analysis of molecular models is therefore demonstrated to be a valuable tool to rationalize the effects of mutations in the context of the clinical phenotype severity. Conclusion: Advanced molecular diagnosis, structural analysis and clinical correlations reveal that MADD patients harboring a severe prognosis mutation in one allele can actually revert to a milder phenotype by complementation with a milder mutation in the other allele. However, such patients are nevertheless in a precarious metabolic balance which can revert to severe fatal outcomes during catabolic stress or secondary pathology, thus requiring strict clinical follow-up.

The central nervous system lesion in amniotic rupture sequence

We review the central nervous system anatomy in nine cases of amniotic rupture sequence, all of which had neuropathological examinations. Of these, four had normal brains, and in none of these was the cranial vault involved, and one had cleft lip and palate. Of the remaining five, all had portions of the scalp, calvarium and dura replaced by amnionic membrane directly overlying arachnoid. In one, the membrane covered a narrow necked large encephalocele, and the contained brain demonstrated extensive disruption and degeneration. In the remaining four, one demonstrated cranioplacental adhesion, and in three there was a broad based encephalocele covered in large part by amnion. Two of these four cases demonstrated holoprosencephaly. One case with holoprosencephaly and one without demonstrated marked aqueductal stenosis, and two of the four demonstrated aqueductal occlusion or near occlusion by neuroglial excrescences. None demonstrated ventriculomegaly. Three of these four cases demonstrate varying degrees of mechanical distortion and secondary pathology. We conclude that brains with amnionic rupture sequence demonstrate both malformation and deformation, which likely points to the embryonic stage origin of the lesion.