scholarly journals Umbilical hernia in children

2003 ◽  
Vol 56 (5-6) ◽  
pp. 291-294 ◽  
Author(s):  
Smiljana Marinkovic ◽  
Svetlana Bukarica
Keyword(s):  
Umbilical Hernia ◽  
Pain Treatment ◽  
Pediatric Population ◽  
Treatment Options ◽  
Clinical Manifestations ◽  
Great Majority ◽  
Common Condition ◽  
Direct Hernia ◽  
Incomplete Closure

Introduction Umbilical hernia is a common condition in the pediatric population. Embryology Umbilical hernia is a consequence of incomplete closure or weakness at the umbilical ring, where protrusion of intraabdominal contents may occur. Anatomy Fascia posterior to the canal is thinner creating an area of weakness. Congenital or direct hernia occurs in this area, while herniation in the umbilical canal leads to indirect or acquired hernia. Incidence The incidence of umbilical hernia is 1.9% to l8.5% in white population. Clinical manifestations The great majority of pediatric umbilical hernias are asymptomatic. Incarceration and strangulation are uncommon Rupture of umbilical hernia with resultant evisceration is extremely rare Umbilical hernia may also be the source of intermittent umbilical or abdominal pain. Treatment Treatment options for umbilical hernias range from simple observation to surgical repair. The great majority close spontaneously and observation with periodic follow-up is appropriate in most cases. There are no available data to suggest that strapping improves or accelerates closure. Operation would be recommended for defects greater than 1cm, by the age 3 to 4. Persistence or enlargement of fascial defect during the period of observation are reasons to consider repair, whatever the age. Complications Complications of operative repair of umbilical hernias include those related to anesthesia and local wound infections. Conclusion Umbilical hernia is a common condition among infants and children. In the great majority of cases the natural history is one of eventual closure without treatment. If spontaneous closure does not occur until the age of 3-4 years, operative correction is recommended.

Clinical and molecular spectrum associated with Polymerase-γ related disorders

2022 ◽  
pp. 088307382110670
Author(s):  
Ruchika Jha ◽  
Harshkumar Patel ◽  
Rachana Dubey ◽  
Jyotindra N. Goswami ◽  
Chandana Bhagwat ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Pediatric Population ◽  
Single Gene ◽  
Management Strategies ◽  
Clinical Manifestations ◽  
Progressive External Ophthalmoplegia ◽  
Leigh Disease ◽  
Pathogenic Variants ◽  
Phenotype Analysis

Background POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the pediatric population. Methods Individuals were recruited across 6 centers in India. Children diagnosed between January 2015 and August 2020 with pathogenic or likely pathogenic POLG variants and age of onset <15 years were eligible. Phenotypically, patients were categorized into Alpers-Huttenlocher syndrome; myocerebrohepatopathy syndrome; myoclonic epilepsy, myopathy, and sensory ataxia; ataxia-neuropathy spectrum; Leigh disease; and autosomal dominant / recessive progressive external ophthalmoplegia. Results A total of 3729 genetic reports and 4256 hospital records were screened. Twenty-two patients with pathogenic variants were included. Phenotypically, patients were classifiable into Alpers-Huttenlocher syndrome (8/22; 36.4%), progressive external ophthalmoplegia (8/22; 36.4%), Leigh disease (2/22; 9.1%), ataxia-neuropathy spectrum (2/22; 9.1%), and unclassified (2/22; 9.1%). The prominent clinical manifestations included developmental delay (n = 14; 63.7%), neuroregression (n = 14; 63.7%), encephalopathy (n = 11; 50%), epilepsy (n = 11; 50%), ophthalmoplegia (n = 8; 36.4%), and liver dysfunction (n = 8; 36.4%). Forty-four pathogenic variants were identified at 13 loci, and these were clustered at exonuclease (18/44; 40.9%), linker (13/44; 29.5%), polymerase (10/44; 22.7%), and N-terminal domains (3/44; 6.8%). Genotype-phenotype analysis suggested that serious outcomes including neuroregression (odds ratio [OR] 11, 95% CI 2.5, 41), epilepsy (OR 9, 95% CI 2.4, 39), encephalopathy (OR 5.7, 95% CI 1.4, 19), and hepatic dysfunction (OR 4.6, 95% CI 21.3, 15) were associated with at least 1 variant involving linker or polymerase domain. Conclusions We describe the clinical subgroups and their associations with different POLG domains. These can aid in the development of follow-up and management strategies of presymptomatic individuals.

scholarly journals Alveolar Echinococcosis in Children

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Emilija Jonaitytė ◽  
Martynas Judickas ◽  
Eglė Tamulevičienė ◽  
Milda Šeškutė
Keyword(s):  
Surgical Treatment ◽  
Current Literature ◽  
Echinococcus Multilocularis ◽  
Cystic Echinococcosis ◽  
Alveolar Echinococcosis ◽  
Pediatric Patients ◽  
Treatment Options ◽  
Clinical Manifestations ◽  
Diagnostic Methods

Alveolar echinococcosis (AE) is an infectious zoonotic disease that is caused by Echinococcus multilocularis. The disease is generally identified accidentally because of the long asymptomatic period, has a malignant behaviour, and mainly occurs in the liver. Usually it is diagnosed in adults and is very rare in pediatric patients. We report two cases of AE and 1 differential case between AE and cystic echinococcosis (CE) in children: two of them had lesions in the liver and one had rare extrahepatic presentation of a cyst in the spleen. All our patients received chemotherapy with albendazole because surgical treatment was not recommended. The children were followed-up from 10 to 30 months and no significant improvement was seen. In this report we discuss the difficulties we faced in the treatment and follow-up of these patients. We also review the main clinical manifestations, general diagnostic methods, and treatment options of AE according to the current literature.

scholarly journals Symptomatic Oculomotor Nerve Cyst in a 3-Year-Old Child: Case Report With Emphasis on Surgical Management

2021 ◽  
Vol 2 (4) ◽  
Author(s):  
Michael Müther ◽  
Ann-Katrin Bruns ◽  
Thomas Fortmann ◽  
Angela Brentrup ◽  
Ulrike Grenzebach ◽  
...  
Keyword(s):  
Pediatric Population ◽  
Treatment Options ◽  
Oculomotor Nerve ◽  
Oculomotor Nerve Palsy ◽  
Oculomotor Palsy ◽  
Vascular Abnormalities ◽  
Functional Part ◽  
Direct Nerve ◽  
Nerve Surgery

Abstract BACKGROUND AND IMPORTANCE Third nerve palsies in the pediatric population are most commonly caused by trauma, tumors, or vascular abnormalities. Cystic oculomotor nerve neuropathies, however, are rare. We report the case of a symptomatic cyst along and within the oculomotor nerve, which has not been described previously. CLINICAL PRESENTATION Here, we report a case of a 3-yr-old girl presenting with a progressive painless oculomotor nerve palsy. A magnetic resonance imaging revealed a cystic formation along the cisternal and cavernous course of the nerve. Due to lack of alternative treatment options, surgery was offered. Intraoperative direct nerve stimulation allowed for identification of a non-functional part of the cyst wall and open fenestration and biopsy were executed. Histopathology revealed neuritis. Serology was negative for various pathogens. The oculomotor palsy rapidly resolved. At a follow-up 5 yr after surgery, the girl is asymptomatic and the cisternal part of the cyst remains collapsed. CONCLUSION This is the first report of a symptomatic cyst along and within the oculomotor nerve treated effectively with open fenestration and decompression highlighting the importance of intraoperative neuromonitoring in cranial nerve surgery. Uncertainty remains regarding the etiology of this disease.

Inferior Turbinectomy in Children

2003 ◽  
Vol 17 (2) ◽  
pp. 69-73 ◽  
Author(s):  
Samuel Segal ◽  
Ephraim Eviatar ◽  
Leonard Berenholz ◽  
Alex Kessler ◽  
Nathan Shlamkovitch ◽  
...  
Keyword(s):  
Sleep Apnea ◽  
Postoperative Complications ◽  
Nasal Obstruction ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Older Children ◽  
Nasal Breathing ◽  
History Of ◽  
Nasal Secretions

Background Inferior turbinectomy on patients of all ages is a controversial procedure. Its effect on children has been reported little in the literature and the few studies that are available involved relatively older children, i.e., >10 years old. Nasal obstruction caused by extensive hypertrophy of the inferior turbinates is not an uncommon observation in the pediatric population. The clinical manifestations might present as snoring, noisy breathing, mouth breathing, and, possibly, sleep apnea. Methods In this study, we followed 227 children >10 years of age who underwent inferior turbinectomy (27 children also underwent a revision of an earlier adenoidectomy), of whom 179 children had significant relief of nasal obstruction at the 1-year follow-up. Results Nocturnal breathing was reported to be more regular and otherwise improved in the 36 children with a suspected history of sleep apnea. Forty-two of 47 children who had thick nasal secretions and did not respond to antibiotic therapy before the operation had significant relief postoperatively. Postoperative complications were few and their number did not exceed that of adults. Conclusions A complete inferior turbinectomy should be considered in children >10 years of age who have hypertrophied inferior turbinates that cause major interference with nasal breathing.

scholarly journals Quando hipertensão arterial persistente no adolescente tem uma origem endócrina rara: relato de dois casos e revisão da literatura

2017 ◽  
Vol 27 (3) ◽  
pp. 26960
Author(s):  
Clara Gomes ◽  
Gabriela Laranjo ◽  
Elisabete Santos ◽  
Cristina Faria
Keyword(s):  
Blood Pressure ◽  
Clinical Presentation ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Pathological Examination ◽  
Left Adrenal Gland ◽  
Ultrasound Computed Tomography ◽  
Lower Morbidity

*** When persistent hypertension  in adolescents has a rare endocrine etiology: report of two cases and literature review ***AIMS: To report two clinical cases of pheochromocytoma, a rare tumor in the pediatric population, that affects the adrenal medulla, is malignant in up to 47% of cases,  and whose clinical manifestations result from hypersecretion of catecholamines.CASE DESCRIPTION: Two cases of pheochromocytoma in adolescents are described, both with persistent hypertension and one with headache, sweating, and tachycardia. Renal and adrenal ultrasound, computed tomography angiography, and measurements of catecholamines and their metabolites revealed pheochromocytoma in the left adrenal gland. Adrenalectomy was performed after pretreatment with α-blockers. Pathological examination confirmed the diagnosis. Blood pressure returned to normal in both patients after treatment.CONCLUSIONS: Pheochromocytoma has a varied and nonspecific clinical presentation, but this condition should always be considered in the differential diagnosis of high blood pressure. Early diagnosis may imply a less aggressive treatment, lower morbidity, and a lesser impact on patients’ quality of life. The high likelihood of recurrence of pheochromocytoma, including as metastatic disease, requires follow-up visits for several years after its initial clinical presentation, even in the case of an apparent cure.

Antiretroviral Treatment-Associated Labia Majora Lipohypertrophy: A Rare Case and Plastic Surgical Treatment Options

2017 ◽  
Vol 2 (1) ◽  
pp. 43
Author(s):  
Akmal Hisham ◽  
Devananthan Ilenghoven ◽  
Wan Syazli Wan Ahmad Kamal ◽  
Salina Ibrahim ◽  
Shah Jumaat Mohd Yussof
Keyword(s):  
Highly Active Antiretroviral Therapy ◽  
Daily Living ◽  
Treatment Options ◽  
Hiv Positive ◽  
Highly Active ◽  
Labia Majora ◽  
The Face ◽  
Central Fat

The emergence of highly active antiretroviral therapy (HAART) has revolutionized the prognosis of HIV-infected patients. However, the extended use of HAART is associated with a disfiguring complication termed lipodystrophy, a disorder of body fat maldistribution causing peripheral fat loss (lipoatrophy) and central fat accumulation (lipohypertrophy). Lipoatrophy commonly affects the face, legs, buttocks and arm, whilst lipohypertrophy frequently favours the abdomen, breast and dorsocervical region. To our knowledge, we present only the second documented case in the literature of a labia majora lipohypertrophy in a HIV-positive patient receiving long-term HAART. The severity of labial abnormality caused significant physical and functional morbidities. Labiaplasty with dermolipectomy of the labia majora and excisional lipectomy of the mons pubis was successfully performed. At a 6-month follow-up, patient had no recurrence with resolution of symptoms and resumption of normal activities of daily living (ADL).

Efficacy and safety of oral dapsone in acne vulgaris – experience of a tertiary care teaching hospital in central Lahore

2020 ◽  
Vol 14 (2) ◽  
pp. 87-90
Author(s):  
Sadaf Amin Chaudhry ◽  
Nadia Ali Zafar ◽  
Rabia Hayat ◽  
Ayesha Noreen ◽  
Gulnaz Ali ◽  
...  
Keyword(s):  
Side Effects ◽  
Therapeutic Option ◽  
Acne Vulgaris ◽  
Treatment Options ◽  
Tertiary Care ◽  
Poor Response ◽  
Global Assessment Scale ◽  
Severe Acne ◽  
Hematologic Profile

Background: Acne is the eighth most prevalent disease affecting 9.4% of the population worldwide and its prevalence in our country is estimated to be around 5%. Severe inflammatory acne is most likely to leave scars and in order to prevent facial disfigurement due to acne scarring, early treatment is desirable. Various treatment options have been formulated for acne, and are tailored according to the severity of the disease. Numerous clinical trials have been conducted till now, to determine the usefulness and side effect profile of such therapies, making acne treatment a highly studied area in dermatology. Objective of this study is to highlight the fact that oral Dapsone could be used as a cheaper alternate to isotretinoin in recalcitrant severe acne, especially in females where retinoids are sometimes contraindicated. Patients and methods: 51 patients, suffering from severe nodulocystic acne, fulfilling the criteria, were enrolled from the Department of Dermatology, Sir Ganga Ram Hospital, Lahore. All the study patients were given oral Dapsone 50mg for initial two weeks and then 100mg daily for the next 10 weeks along with oral cimetidine and topical clindamycin application twice daily. Investigator Global Assessment Scale (IGAS) was employed to measure effectiveness. The treatment was considered ʽeffectiveʹ if the patient achieves 2 or more than 2-grade improvement or almost clear or clear skin at the end of 12 weeks according to IGAS scale. The lesion counts were also done before the start of therapy (day 1) and at every two weeks follow up for 12 weeks. The change in lesion count observed between the baseline number and that seen at follow up visits was also used to evaluate the effectiveness of oral Dapsone. Safety was analyzed by fortnightly visits of the patients to look for any undesirable side effects and monitoring of the hematologic profile of the patients. Final follow up was done at the end of 16 weeks. Results: The study was conducted on 51 patients, with a ratio of 1:3 for males and females and a mean age of 25.2 years (SD ±5.81). At 12th week, patients had significant reduction in their acne lesions; with 7 patients (13.7%) showing completely clear skin, 17 patients (33.3%) had almost clear skin, 5 patients (9.8%) had 3-grade improvement. Twelve patients (23.5%) had 2-grade improvement from baseline score and only 2 patients (3.9%) had 1-grade improvement from baseline. Based on percentage reduction of lesions, excellent response was seen in 32 patients (62.7%), good response in 9 patients (17.6%), moderate response in 2 patients (3.9%), while no patient showed poor response. Dapsone was discontinued in 8 patients due to derangement of hematologic profile. Conclusion: Oral Dapsone, when given carefully, is a very effective therapeutic option in severe recalcitrant acne, with limited side effects.

Using Naïve Bayes Algorithm to Estimate the Response to Drug in Lung Cancer Patients

2019 ◽  
Vol 21 (10) ◽  
pp. 734-748 ◽  
Author(s):  
Baoling Guo ◽  
Qiuxiang Zheng
Keyword(s):  
Lung Cancer ◽  
Side Effects ◽  
Cancer Patients ◽  
Drug Response ◽  
Treatment Options ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Cancer Resistance ◽  
Lung Cancer Patients ◽  
Bayes Algorithm

Aim and Objective: Lung cancer is a highly heterogeneous cancer, due to the significant differences in molecular levels, resulting in different clinical manifestations of lung cancer patients there is a big difference. Including disease characterization, drug response, the risk of recurrence, survival, etc. Method: Clinical patients with lung cancer do not have yet particularly effective treatment options, while patients with lung cancer resistance not only delayed the treatment cycle but also caused strong side effects. Therefore, if we can sum up the abnormalities of functional level from the molecular level, we can scientifically and effectively evaluate the patients' sensitivity to treatment and make the personalized treatment strategies to avoid the side effects caused by over-treatment and improve the prognosis. Result & Conclusion: According to the different sensitivities of lung cancer patients to drug response, this study screened out genes that were significantly associated with drug resistance. The bayes model was used to assess patient resistance.

Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine

2020 ◽  
Vol 16 (8) ◽  
pp. 807-819 ◽  
Author(s):  
Madalena Sousa ◽  
Jácome Bruges-Armas
Keyword(s):  
Diabetes Mellitus ◽  
Complex Disease ◽  
Clinical Manifestations ◽  
Neonatal Diabetes ◽  
Monogenic Diabetes ◽  
Diabetes Genetics ◽  
Individualize Treatment

Background: Diabetes mellitus (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM), recent studies have emphasized the crucial role of genetics in DM, allowing the distinction of monogenic diabetes. Methods: Authors did a literature search with the purpose of highlighting and clarifying the subtypes of monogenic diabetes, as well as the accredited genetic entities responsible for such phenotypes. Results: The following subtypes were included in this literature review: maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus (NDM) and maternally inherited diabetes and deafness (MIDD). So far, 14 subtypes of MODY have been identified, while three subtypes have been identified in NDM - transient, permanent, and syndromic. Discussion: Despite being estimated to affect approximately 2% of all the T2DM patients in Europe, the exact prevalence of MODY is still unknown, accentuating the need for research focused on biomarkers. Consequently, due to its impact in the course of treatment, follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately. Conclusion: Currently, advances in the genetics field allowed the recognition of new DM subtypes, which until now, were considered slight variations of the typical forms. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations, to facilitate diagnosis and individualize treatment.

scholarly journals Data Driven Mathematical Model of FOLFIRI Treatment for Colon Cancer

Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2632
Author(s):  
Aparajita Budithi ◽  
Sumeyye Su ◽  
Arkadz Kirshtein ◽  
Leili Shahriyari
Keyword(s):  
Mathematical Model ◽  
Colon Cancer ◽  
Cancer Patients ◽  
Immune Cell ◽  
Treatment Options ◽  
Data Driven ◽  
T Helper ◽  
Primary Tumors ◽  
Cell Fractions

Many colon cancer patients show resistance to their treatments. Therefore, it is important to consider unique characteristic of each tumor to find the best treatment options for each patient. In this study, we develop a data driven mathematical model for interaction between the tumor microenvironment and FOLFIRI drug agents in colon cancer. Patients are divided into five distinct clusters based on their estimated immune cell fractions obtained from their primary tumors’ gene expression data. We then analyze the effects of drugs on cancer cells and immune cells in each group, and we observe different responses to the FOLFIRI drugs between patients in different immune groups. For instance, patients in cluster 3 with the highest T-reg/T-helper ratio respond better to the FOLFIRI treatment, while patients in cluster 2 with the lowest T-reg/T-helper ratio resist the treatment. Moreover, we use ROC curve to validate the model using the tumor status of the patients at their follow up, and the model predicts well for the earlier follow up days.

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