Chronic sclerosing sialadenitis of the bilateral submandibular glands in childhood - a diagnostic dilemma.

Chronic sclerosing sialadenitis (CSS), currently included in the group of immunoglobulin G4 (IgG4)-related diseases, is an under-recognized inflammatory lesion that afflicts mostly the submandibular gland of 40-60 years adults. To our knowledge, only one case of CSS located in the submandibular gland has been reported in childhood to date. We present a case of CSS in a 5-year-old male child. He presented with bilateral submandibular swellings that clinically resembled discrete lumps, suspected to be tumors. The completely resected tumors composed predominantly of dense lymphoplasmacytic inflammatory infiltrate rich in IgG4-positive cells [77-90 IgG(+) cells per high-power field; IgG4(+)∕IgG(+) cells ratio of 42.77%]. We discuss the peculiarities of this case, and we also review the literature on CSS.

A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report.

Collagen VI-related disorders constitute a spectrum of severities from the milder Bethlem myopathy (BM) to the Ullrich congenital muscular dystrophy (UCMD), which is more severe, and an intermediate form characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected cases, the respiratory muscles are weakened, requiring mechanical ventilation, particularly during sleep. Individuals with collagen VI-related myopathy are at risk of restrictive lung disease and sleep-disordered breathing due to the development of scoliosis associated with neuromuscular weakness. Typical signs of respiratory failure are not always present, and some patients are unaware that their respiratory muscles have become weaker. Here, we report a case of an intermediate form of collagen VI-related myopathy confirmed by next-generation sequencing. The girl presented morning headache, irritability, and aggressiveness, and because of these main symptoms, she was referred by the neurologist for respiratory evaluation. The result of spirometry was associated with hypoventilation shown during sleep studies, indicating the necessity to initiate home non-invasive ventilation (NIV) with immediate improvement in the symptoms. Neuromuscular disorders (NMDs) have a great impact on sleep, but only very few studies evaluating sleep quality in young patients with collagen VI-related myopathy have been described. Daytime symptoms of sleep-disordered breathing may include irritability, emotional lability, and poor attentiveness, but these can be overseen by the severity of other complex medical problems in patients with collagen VI-related myopathy. We underline the importance of the close monitoring of respiratory function, sleep evaluation, and decision making to support the NIV treatment of other collagen VI-related myopathy variant-specific patients. Early recognition of sleep disturbances and initiation of respiratory support can preserve or enhance the quality of life for patients and their caregivers. Routine screening for identification of emotional distress should be instituted in the clinical practice using validated psychological measures in a multidisciplinary approach with different intervention strategies for both patient and parent when necessary.

Clinical Features and Outcomes of the Association of Co-Infections in Children with Laboratory-Confirmed Influenza during the 2022-2023 Season: A Romanian Perspective.

The 2022-2023 influenza season in Romania was characterized by high pediatric hospitalization rates, predominated due to influenza A subtypes (H1N1) pdm09 and H3N2. The lowered population immunity to influenza after the SARS-CoV-2 pandemic and the subsequent stoppage of influenza circulation, particularly in children who had limited pre-pandemic exposures, influenced hospitalization among immunosuppressed children and patients with concurrent medical conditions who are at an increased risk for developing severe forms of influenza. This study focused on the characteristics of influenza issues among pediatric patients, as well as the relationship between different influenza virus types/subtypes and viral and bacterial co-infections, as well as illness severity in the 2022-2023 season after the SARS-CoV-2 pandemic. We conducted a retrospective clinical analysis on 301 cases of influenza in pediatric inpatients (age ≤ 18 years) who were hospitalized at the National Institute of Infectious Diseases "Prof. Dr. Matei Balș" IX Pediatric Infectious Diseases Clinical Section between October 2022 and February 2023. The study group's median age was 4.7 years, and the 1-4 year age group had the highest representation (57.8%). Moderate clinical forms were found in 61.7% of cases, whereas severe versions represented 18.2% of cases. Most of the complications were respiratory (acute interstitial pneumonia, 76.1%), hematological (72.1%, represented by intra-infectious and deficiency anemia, leukopenia, and thrombocytopenia), and 33.6% were digestive, such as diarrheal disease, liver cytolysis syndrome, and the acute dehydration syndrome associated with an electrolyte imbalance (71.4%). Severe complications were associated with a risk of unfavorable evolution: acute respiratory failure and neurological complications (convulsions, encephalitis). No deaths were reported. We noticed that the flu season of 2022-2023 was characterized by the association of co-infections (viral, bacterial, fungal, and parasitic), which evolved more severely, with prolonged hospitalization and more complications (p < 0.05), and the time of use of oxygen therapy was statistically significant (p < 0.05); the number of influenza vaccinations in this group was zero. In conclusion, co-infections with respiratory viruses increase the disease severity of the pediatric population to influenza, especially among young children who are more vulnerable to developing a serious illness. We recommend that all people above the age of six months should receive vaccinations against influenza to prevent the illness and its severe complications.

Langerhans Cells-Revising Their Role in Skin Pathologies.

Langerhans cells (LCs) constitute a cellular immune network across the epidermis. Because they are located at the skin barrier, they are considered immune sentinels of the skin. These antigen-presenting cells are capable of migrating to skin draining lymph nodes to prime adaptive immune cells, namely T- and B-lymphocytes, which will ultimately lead to a broad range of immune responses. Moreover, LCs have been shown to possess important roles in the anti-cancer immune responses. Indeed, the literature nicely highlights the role of LCs in melanoma. In line with this, LCs have been found in melanoma tissues where they contribute to the local immune response. Moreover, the immunogenic properties of LCs render them attractive targets for designing vaccines to treat melanoma and autoimmune diseases. Overall, future studies will help to enlarge the portfolio of immune properties of LCs, and aid the prognosis and development of novel therapeutic approaches to treating skin pathologies, including cancers.

A Romanian experience of syphilis in pregnancy and childbirth.

OBJECTIVE: to establish the incidence of syphilis in a group of childbearing women and their newborn babies in Romania and to identify the major risk factors of materno-fetal transmission in order for midwives to develop strategies to help prevent congenital syphilis. MATERIAL AND METHODS: a descriptive study of a group of 982 childbearing women who gave birth during a three-month period at an Obstetrics and Gynaecology Hospital in Romania. The women completed a questionnaire, which consisted of three sections: general data, general knowledge of syphilis and birth and pregnancy data. After admission to hospital, the women were investigated for syphilis using serological tests. RESULTS: there was a syphilis frequency of 0.91649% (n = 9) among the surveyed women. Among the nine infected women, two were not aware that they had a syphilis infection when initially admitted to hospital. The maternal profile with the highest risk of being diagnosed with syphilis was a young woman who had not had adequate prenatal care, who had elementary sex education and who lacked knowledge of personal health and hygiene. A significant percentage of the respondents, namely 11.9% (n = 117), were aged 15 to 20. CONCLUSIONS: in certain population groups, syphilis is still an important health care problem, especially in vulnerable individuals, such as childbearing women and newborns babies. More attention needs to be paid to primary prevention; the number of cases of congenital syphilis could be reduced by more involvement of midwifes and family doctors in antenatal care.

A rare case of mitochondriopathy with autosomal dominant progressive external ophthalmoplegia diagnosed through skeletal muscle biopsy.

Mitochondriopathies are a heterogeneous group of genetic diseases of all ages, with a very diverse clinical presentation related to genetic heteroplasmy. The clinical symptoms display a large variability and generally, the more severe phenotypes have an early onset, even from the neonatal period, while milder ones are manifested later in the adulthood. Most publications have already demonstrated deletions or point mutations in mitochondrial deoxyribonucleic acid (DNA), but in recent years, the field of investigation has expanded to syndromes caused by mutations in the nuclear DNA (nDNA), with a Mendelian inheritance. We present the case of a male patient with a mitochondriopathy with phenotype of chronic progressive external ophthalmoplegia (PEO), due to an autosomal dominant mutation in nDNA, in the DNA polymerase subunit gamma (POLG) gene, the pathogenic variant c.2864A>G (p.Tyr955Cys), morphologically investigated and diagnosed using a skeletal muscle biopsy. The aim of this presentation is to emphasize the diagnostic value of the muscle biopsy both in cases of clinical suspicion and in more challenging cases of mitochondrial diseases with atypical or unusual features. Although genetic testing may be the initial test of choice in cases with suggestive clinical presentation, muscle biopsy is an alternative diagnostic aid with high value even in our molecular era. We present pathological and ultrastructural data to confirm the diagnosis.

Dendritic cell distribution in mycosis fungoides vs. inflammatory dermatosis and other T-cell skin lymphoma.

Dendritic cells (DCs) are antigen-presenting cells with an important role in the innate and adaptive immune system. In skin lesions, cutaneous DCs (Langerhans cells, dermal DCs and plasmacytoid DCs) are involved in immune activation in inflammatory benign lesions, as well as in malignant lymphoid proliferations. Density and distribution of DCs in the dermal infiltrate can be helpful to differentiate benign, reactive infiltrate from malignant nature of the lymphoid population. We performed a retrospective study including 149 patients: 35 with mycosis fungoides, 35 with spongiotic dermatitis, 35 with psoriasis, 35 with lupus and 9 with cutaneous T-cell lymphomas (other than mycosis fungoides), diagnosed using histopathological and immunohistochemical stains. Density and distribution of DCs were evaluated using specific markers (CD1a, CD11c and langerin). In all cases, numerous DCs were identified in the dermal infiltrate. Their number was significantly increased in mycosis fungoides and T-cell lymphomas and moderately increased in inflammatory lesions. Variable patterns of distribution were identified such as clusters of DCs with arachnoid extension in mycosis fungoides, nodular pattern in inflammatory lesions and dispersed distribution with peripheric accumulation in T-skin lymphomas. Therefore, immunohistochemical characterization of DC distribution can be an adjuvant tool in differential diagnosis in inflammatory dermatosis and skin lymphomas.

Extramammary Paget's disease in an HIV-positive patient.

Extramammary Paget's disease (EMPD) is an uncommon intraepithelial carcinoma usually found as an irregular, pruritic plaque on the apocrine-rich anogenital skin. Diagnosis of EMPD is challenging due to the rarity of the disease and the uncharacteristic clinical aspect and requires histopathological confirmation. We report the case of a 62-year-old human immunodeficiency virus (HIV)-positive male, which presents with a lesion of the left part of pubic area with clinical and dermatoscopic appearance suggestive for Bowen's disease but with histopathological diagnosis of EMPD. We present pathological and immunohistochemical data to confirm the diagnosis.

Improving the Adherence to Antiretroviral Therapy, a Difficult but Essential Task for a Successful HIV Treatment-Clinical Points of View and Practical Considerations.

HIV infection is responsible for one the most devastating human pandemics. The advent of antiretroviral therapy has changed the course of the pandemic and saved millions of lives. Complex therapeutic regimens have been introduced since 1996 and have contributed to the transformation of HIV infection into a treatable chronic diseases. New types of potent antiretrovirals and their combinations, including "once daily" treatment, have simplified the regimens and diminished side effects. Nevertheless the adherence to antiretroviral therapy remains unsatisfactory and varies between 27 and 80% across different population in various studies, compared with the required level of 95%. The lack of adherence to antiretroviral therapy is a multi-factorial and dynamic process which raises considerable difficulties for long-term follow-up. Current solutions to this problem are complex. These should be applied by a multidisciplinary team and should take into account key features related to both the individual and social factors as well as to the population to whom it belongs (children, teenagers, elderly, marginalized population like drug users, incarcerated patients, sex workers, etc.). Importantly, adherence should continue to be monitored even in patients known to be compliant. In case of subsequent failure the team should identify the reasons for non-adherence and apply the appropriate methods. Where usual methods have no chance of success, a coordinated package of services also known as "harm reduction" can be offered in order to reduce the risks of transmission. The current article analyses the concept of adherence to antiretroviral therapy, the shortcomings of this medication and the methods that can be applied in practice to increase adherence. Emphasis is placed on the analysis of groups at high risk for HIV infection that currently represent the spearhead with which the HIV pandemic is spreading.