scholarly journals Chronic Nonbacterial Osteomyelitis in Children

Children ◽  
2021 ◽  
Vol 8 (7) ◽  
pp. 551
Author(s):  
Aikaterini Koryllou ◽  
Manel Mejbri ◽  
Katerina Theodoropoulou ◽  
Michael Hofer ◽  
Raffaella Carlomagno
Keyword(s):  
Bone Fractures ◽  
Bone Biopsy ◽  
Wide Spectrum ◽  
Pediatric Population ◽  
Laboratory Finding ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Chronic Recurrent Multifocal Osteomyelitis ◽  
Multifocal Lesions ◽  
Chronic Nonbacterial Osteomyelitis

Chronic nonbacterial osteomyelitis (CNO) is an auto-inflammatory bone disorder with a wide spectrum of clinical manifestations, from unifocal to multifocal lesions. When it manifests with multifocal lesions, it is also referred to as chronic recurrent multifocal osteomyelitis (CRMO). CNO/CRMO can affect all age groups, with the pediatric population being the most common. Patients may present with systemic inflammation, but there is no pathognomonic laboratory finding. Magnetic resonance imaging (MRI) is the gold standard radiological tool for diagnosis. In the absence of validated diagnostic criteria, CNO/CRMO remains an exclusion diagnosis. Bone biopsy does not show a specific disease pattern, but it may be necessary in unifocal or atypical cases to differentiate it from malignancy or infection. First-line treatments are non-steroidal anti-inflammatory drugs (NSAIDs), while bisphosphonates or TNF-α blockers can be used in refractory cases. The disease course is unpredictable, and uncontrolled lesions can complicate with bone fractures and deformations, underlying the importance of long-term follow-up in these patients.

scholarly journals HEMORRHOIDS IN THE PEDIATRIC POPULATION: CLINICAL MANIFESTATIONS, DIAGNOSTICS AND TREATMENT

2019 ◽  
Vol 23 (3) ◽  
pp. 119-123
Author(s):  
Pyae Swe Aung ◽  
Viktoria V. Kholostova
Keyword(s):  
Surgical Treatment ◽  
Conservative Therapy ◽  
Ultrasound Examination ◽  
Pediatric Population ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Pain Syndrome ◽  
Effective Technique ◽  
Younger Age ◽  
Conservative And Surgical Treatment

Introduction. Hemorrhoids in childhood is a rare disease. That is why one can find only few works on this problem. Material and methods. 56 children with diagnosed hemorrhoids aged 4-18 were taken into the study. They had various clinical manifestations of the disease: perianal protrusion (76.4%), bleeding (82.3%), pain syndrome (71.5%). 51 patient (91.1%) had external hemorrhoids; 3 children (5.3%) - internal; 2 children (3.6%) - combined. Patients, by their clinical course, were distributed as follows: acute hemorrhoids - 33 children (58.9%), chronic one - 23 (41.1%). Ultrasound examination and sigmoidoscopy were used for diagnostics. Different curative techniques followed the developed curative algorithm: conservative therapy and surgery (open surgery and with the LigaSure apparatus) as well as sclerotherapy. Results. The most effective technique, having better cosmetic and clinical outcomes, was hemorrhoidectomy. Conservative treatment (more than 80%) can be a method of choice at early stages of the disease and at younger age groups. Outcomes after sclerotherapy are comparable with outcomes of conservative and surgical treatment. Sclerotherapy is recommended at the internal stages of hemorrhoids and in case of any contraindications to surgical treatment.

scholarly journals Hypothalamic hamartoma with gelastic seizures: a case report

2020 ◽  
Vol 7 (4) ◽  
pp. 961
Author(s):  
Zosangliani . ◽  
Avishek Datta ◽  
Rukuwe Thele ◽  
Bishal Gurung ◽  
T. Kambiakdik
Keyword(s):  
Pediatric Population ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Clonic Seizure ◽  
Tonic Clonic Seizure ◽  
Hypothalamic Hamartoma ◽  
Gelastic Seizures ◽  
Younger Age ◽  
Gelastic Seizure ◽  
Gelastic Epilepsy

Hypothalamic Hamartoma (HH) may have diverse clinical manifestations. Its hallmark association is with gelastic seizures. Gelastic epilepsy is characterized by episodes of loud, hollow, mirthless, stereo-typed, forced laughter. The patient may stare and giggle briefly without any other motor manifestations. Hypothalamic hamartoma is most often the cause of gelastic seizures. Here, authors report a case of gelastic seizure with hypothalamic hamartoma in a 14-month-old boy with an associated tonic clonic seizure.  This case highlights the possibility of underdiagnosed hypothalamic hamartoma in younger age groups among pediatric population.

Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint

Lupus ◽  
2021 ◽  
pp. 096120332110142
Author(s):  
Tamer A Gheita ◽  
Rasha Abdel Noor ◽  
Esam Abualfadl ◽  
Osama S Abousehly ◽  
Iman I El-Gazzar ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Age Of Onset ◽  
Wide Spectrum ◽  
Age At Onset ◽  
Disease Onset ◽  
Clinical Manifestations ◽  
Population Based ◽  
Systemic Lupus ◽  
Cross Sectional

Objective The aim of this study was to present the epidemiology, clinical manifestations and treatment pattern of systemic lupus erythematosus (SLE) in Egyptian patients over the country and compare the findings to large cohorts worldwide. Objectives were extended to focus on the age at onset and gender driven influence on the disease characteristics. Patients and method This population-based, multicenter, cross-sectional study included 3661 adult SLE patients from Egyptian rheumatology departments across the nation. Demographic, clinical, and therapeutic data were assessed for all patients. Results The study included 3661 patients; 3296 females and 365 males (9.03:1) and the median age was 30 years (17–79 years), disease duration 4 years (0–75 years) while the median age at disease onset was 25 years (4–75 years). The overall estimated prevalence of adult SLE in Egypt was 6.1/100,000 population (1.2/100,000 males and 11.3/100,000 females).There were 316 (8.6%) juvenile-onset (Jo-SLE) and 3345 adult-onset (Ao-SLE). Age at onset was highest in South and lowest in Cairo (p < 0.0001). Conclusion SLE in Egypt had a wide variety of clinical and immunological manifestations, with some similarities with that in other nations and differences within the same country. The clinical characteristics, autoantibodies and comorbidities are comparable between Ao-SLE and Jo-SLE. The frequency of various clinical and immunological manifestations varied between gender. Additional studies are needed to determine the underlying factors contributing to gender and age of onset differences.

scholarly journals 1707. Clinical Profile of Human T-Lymphotropic Virus Type I Infection in Pediatric Population in a Referral Hospital in Colombia

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S836-S837
Author(s):  
Juliana Mejia- Mertel ◽  
Juan P Rojas -Hernandez
Keyword(s):  
Virus Type ◽  
Low Income ◽  
Pacific Coast ◽  
Vision Loss ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Low Income Countries ◽  
Nutritional Deficiencies ◽  
Type I ◽  
T Lymphotropic Virus

Abstract Background The Human T-lymphotropic virus type 1 (HTLV-1), affects around ten to twenty million people worldwide, predominantly in intertropical regions (Africa, Japan, Melanesia, Australia, and South America Pacific Coast). The most common disorders associated are T-cell leukemia/lymphoma (ALT) and HTLV-1-associated myelopathy (HAM). Studies have reported other clinical manifestations in HTLV-1, still studies are needed in pediatric population to improve diagnosis and treatment of infected patients. Methods Descriptive, retrospective cohort study, conducted in our referral pediatric hospital in Cali, Colombia. Included pediatric patients (1 to 18 years of age) diagnosed with HTLV-1 infection, between January 2017 to March 2020. Results Twelve patients were included, seven males and five females. Eleven patients were from and resided in the Colombian Pacific coast. Ten patients showed nutritional deficiencies. None showed clinical or laboratory signs of ALT, neither neurological symptoms or physical exam suggesting HAM. In terms of associated diseases and opportunistic infections, none had a positive HIV ELISA test, and stool tests were all negative for Strongiloydes. Four presented infective dermatitis, and two showed lesions suggesting scabies. Eight patients presented respiratory symptoms with chest CT scans showing signs of chronic inflammation, bronchiectasis, and subpleural bullae as the major findings. Additional tests were carried out in bronchoalveolar fluid, four had positive galactomannan test,suggesting pulmonary aspergillosis, two exhibited positive gene PCR testing for Mycobacterium tuberculosis. Regarding inflammatory diseases, one patient presented with symptoms of Inflammatory Bowl Disease, with biopsy confirming Crohn’s disease. Another patient presente abrupt vision loss, diagnosed with Vogt Koyanagi Hadara Syndrome after ophthalmological evaluation. Summary features HTLV-1 patients Ground-glass opacity diffusely distributed in both lungs with multiple bronchiectasis involving predominantly lung bases. Cystic images diffusely distributed in both lungs, some subpleural and other centrilobular. Conclusion It is important to consider alternative manifestations of HTLV-1 infection in the pediatric population, including pulmonary disease, opportunistic co-infections, and inflammatory disorders. It is crucial to diagnose this disease in childhood to reach a better control of this neglected infection that affects predominantly vulnerable population in low-income countries. Disclosures All Authors: No reported disclosures

scholarly journals Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Diagnostics ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 1218
Author(s):  
Raffaella Brunetti-Pierri ◽  
Marianthi Karali ◽  
Francesco Testa ◽  
Gerarda Cappuccio ◽  
Maria Elena Onore ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Joubert Syndrome ◽  
Male Adult ◽  
Full Field ◽  
Pathogenic Variants ◽  
Disease Spectrum ◽  
Male Individual ◽  
The Central Nervous System

Pathogenic variants in the MKS1 gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigmentosa (RP), as assessed by full ophthalmological evaluation including Best-Corrected Visual Acuity measurements, fundus examination, Goldmann Visual Field test, and full-field Electroretinography. A clinical exome identified biallelic nonsense variants in MKS1 that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. Brain magnetic resonance imaging revealed malformations of the posterior cranial fossa with the ‘molar tooth sign’ and cerebellar folia dysplasia, which are both distinctive features of JBTS. No other organ or skeletal abnormalities were detected. This case illustrates the power of clinical exome for the identification of the mildest forms of a disease spectrum, such as a mild JBTS with RP in the presented case of an individual carrying biallelic truncating variants in MKS1.

scholarly journals Gynecologic Malignancies in Children and Adolescents: How Common is the Uncommon?

2021 ◽  
Vol 10 (4) ◽  
pp. 722
Author(s):  
Christoph Wohlmuth ◽  
Iris Wohlmuth-Wieser
Keyword(s):  
Pediatric Population ◽  
Age Groups ◽  
Germ Cell Tumors ◽  
Population Based ◽  
Prognostic Indicators ◽  
Gynecologic Malignancies ◽  
Kaplan Meier ◽  
Disease Stages ◽  
Malignant Germ Cell Tumors ◽  
Vaginal Neoplasms

The aim of this study is to assess the projected incidence and prognostic indicators of gynecologic malignancies in the pediatric population. In this population-based retrospective cohort study, girls ≤18 years with ovarian, uterine, cervical, vaginal and vulvar malignancies diagnosed between 2000 and 2016 were identified from the Surveillance, Epidemiology and End Results (SEER)-18 registry. The Kaplan–Meier method was used to analyze overall survival (OS). The age-adjusted annual incidence of gynecologic malignancies was 6.7 per 1,000,000 females, with neoplasms of the ovary accounting for 87.5%, vagina 4.5%, cervix 3.9%, uterus 2.5% and vulva 1.6% of all gynecologic malignancies. Malignant germ-cell tumors represented the most common ovarian neoplasm, with an increased incidence in children from 5–18 years. Although certain subtypes were associated with advanced disease stages, the 10-year OS rate was 96.0%. Sarcomas accounted for the majority of vaginal, cervical, uterine and vulvar malignancies. The majority of vaginal neoplasms were observed in girls between 0–4 years, and the 10-year OS rate was 86.1%. Overall, gynecologic malignancies accounted for 4.2% of all malignancies in girls aged 0–18 years and the histologic subtypes and prognosis differed significantly from patients in older age groups.

scholarly journals A Case of COVID-19-Related Thrombocytopenia and Leukopenia in an Adolescent with Mild Symptoms

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 509
Author(s):  
Lydia Kossiva ◽  
Athanasios Thirios ◽  
Eleni Panagouli ◽  
Alexandros Panos ◽  
Stavroula Lampidi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Viral Infection ◽  
Nasal Congestion ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Bone Marrow Aspiration ◽  
White Blood Count ◽  
Chronic Obstructive ◽  
First Case ◽  
The Impact

Since the beginning of the COVID-19 pandemic, there have been numerous reports and reviews on the complications caused by the disease, analyzing the acute and chronic consequences. The main symptoms of SARS-CoV-2 are dry cough, fever, and fatigue. COVID-19 appears to affect all systems, including renal, cardiovascular, circulatory, and respiratory systems, causing chronic obstructive pulmonary disease. We report on a 14-year-old male adolescent, who presented with thrombocytopenia (platelet count 92 × 109 /L) and leukopenia (white blood count 4.2 × 103 /μL) that was observed two months ago. Ten days before the first blood test, a viral infection with nasal congestion and runny nose was reported, without other accompanying symptoms. Viral antibodies screening revealed positivity for all the three specific COVID-19 antibodies. Further haematological evaluation with bone marrow aspiration revealed non-specific dysplastic features of the red cell and megakaryocyte progenitors. Although haematological alterations due to COVID-19 infection are available from adult patients’ reports, the effect of COVID-19 infection in the pediatric population is underestimated and this is the first case with such haematological involvement. Noteworthy, in the current case, the impact of the COVID-19 infection was not related to the severity of the disease, as the symptoms were mild. In similar cases, bone marrow aspiration would not be performed as a part of routine work-up. Thus, it is important when evaluating pediatric patients with COVID-19 infection to search and report those alterations in order to better understand the impact and the spectrum of clinical manifestations of the specific viral infection in children and adolescents.

scholarly journals Management of primary and secondary osteoporosis in children

2020 ◽  
Vol 12 ◽  
pp. 1759720X2096926
Author(s):  
Sophia D. Sakka ◽  
Moira S. Cheung
Keyword(s):  
Bone Fractures ◽  
Bone Biopsy ◽  
Treatment Options ◽  
Quantitative Computed Tomography ◽  
Fragility Fractures ◽  
Secondary Osteoporosis ◽  
Long Bone ◽  
Vertebral Fracture Assessment ◽  
Primary Osteoporosis ◽  
Mineral Density

Osteoporosis in children differs from adults in terms of definition, diagnosis, monitoring and treatment options. Primary osteoporosis comprises primarily of osteogenesis imperfecta (OI), but there are significant other causes of bone fragility in children that require treatment. Secondary osteoporosis can be a result of muscle disuse, iatrogenic causes, such as steroids, chronic inflammation, delayed or arrested puberty and thalassaemia major. Investigations involve bone biochemistry, dual-energy X-ray absorptiometry scan for bone densitometry and vertebral fracture assessment, radiographic assessment of the spine and, in some cases, quantitative computed tomography (QCT) or peripheral QCT. It is important that bone mineral density (BMD) results are adjusted based on age, gender and height, in order to reflect size corrections in children. Genetics are being used increasingly for the diagnosis and classification of various cases of primary osteoporosis. Bone turnover markers are used less frequently in children, but can be helpful in monitoring treatment and transiliac bone biopsy can assist in the diagnosis of atypical cases of osteoporosis. The management of children with osteoporosis requires a multidisciplinary team of health professionals with expertise in paediatric bone disease. The prevention and treatment of fragility fractures and improvement of the quality of life of patients are important aims of a specialised service. The drugs used most commonly in children are bisphosphonates, that, with timely treatment, can give good results in improving BMD and reshaping vertebral fractures. The data regarding their effect on reducing long bone fractures are equivocal. Denosumab is being used increasingly for various conditions with mixed results. There are more drugs trialled in adults, but these are not yet licenced for children. Increasing awareness of risk factors for paediatric osteoporosis, screening and referral to a specialist team for appropriate management can lead to early detection and treatment of asymptomatic fractures and prevention of further bone damage.

scholarly journals The Specific Characteristics in Children with Obstructive Sleep Apnea and Cor Pulmonale

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Pi-Chang Lee ◽  
Betau Hwang ◽  
Wen-Jue Soong ◽  
C. C. Laura Meng
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Cor Pulmonale ◽  
Arousal Index ◽  
Obstructive Sleep ◽  
Hemodynamic Characteristics ◽  
Pulmonary Arterial

Background.The prevalence of obstructive sleep apnea (OSA) in the pediatric population is currently estimated at 1-2% of all children. The purpose of this study was to investigate the clinical and hemodynamic characteristics in pediatric patients with cor pulmonale and OSA.Methods.Thirty children with the diagnosis of OSA were included. These patients consisted of 26 male and 4 female children with a mean age of 7 ± 4 years old. Five of those children were found to be associated with cor pulmonale, and 25 had OSA but without cor pulmonale.Results.The arousal index was much higher in children with OSA and cor pulmonale. The children with OSA and cor pulmonale had much lower mean and minimal oxygen saturation and a higher incidence of bradycardia events. All 5 patients with OSA and cor pulmonale underwent an adenotonsillectomy, and the pulmonary arterial pressure dropped significantly after the surgery.Conclusion.This study demonstrated that the OSA pediatric patients with cor pulmonale had the different clinical manifestations and hemodynamic characteristics from those without cor pulmonale. The adenotonsillectomy had excellent results in both the OSA pediatric patients with and without cor pulmonale.

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