scholarly journals Very Early Onset of Leber’s Mitochondrial Optic Neuropathy in Pediatric Females: Case Report and Review of the Literature

2021 ◽  
Author(s):  
Sara Tagliani ◽  
Cristina Malaventura ◽  
Chiara Ceccato ◽  
Francesco Parmeggiani ◽  
Agnese Suppiej
Keyword(s):  
Optic Neuropathy ◽  
Age At Onset ◽  
Adult Males ◽  
Diagnostic Challenge ◽  
Female Ratio ◽  
Young Females ◽  
Female Phenotype ◽  
Common Clinical Presentation ◽  
Male To Female ◽  
Hereditary Optic Neuropathy

Abstract BackgroundLeber’s hereditary optic neuropathy is a rare mitochondrial disease that usually begins in the second/third decade of life and affects generally young adult males. The information is scarce on the female phenotype particularly when onset is at a very young age and the diagnosis is challenged by other more frequent conditions. Aim of this study is to highlight the pediatric female phenotype by a literature review and by adding a new case.MethodsThe literature search was conducted on Pubmed in the period September 2020-February 2021 using “Child”, “Leber Hereditary Optic Neuropathy”, “females” “girls” keywords. We add a three years old girl with genetically confirmed Leber’s hereditary optic neuropathy.Results55 of 968 articles reported pediatric in girls accounting for 226 cases, male to female ratio 1,8:1. Mean age at onset was 11 years. The onset at the age of 3 years was described in only 3 girls, including our case. Acute bilateral mild visual impairment was the most common clinical presentation, associated to papilledema in 14% of the cases who underwent fundus oculi examination. Partial visual recovery occurred in 50% (30/60). Idebenone treatment was administered in 5/30. ConclusionLHON is extremely rare in very young females and represents a diagnostic challenge for the pediatrician. It should be considered even in young girls with acute-subacute visual loss, bilateral pseudo-papilledema, VEP changes non responding to steroid therapy.

scholarly journals Disparities between IgG4-related kidney disease and extrarenal IgG4-related disease in a case–control study based on 450 patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Qiaozhu Zeng ◽  
Jingyuan Gao ◽  
Xinyu Zhang ◽  
Aichun Liu ◽  
Zhenfan Wang ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Clinical Laboratory ◽  
Imaging Finding ◽  
Age At Onset ◽  
Female Ratio ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Peking University ◽  
Chinese Cohort ◽  
Male To Female

AbstractWe aimed to compare the demographic, clinical and laboratory characteristics between IgG4-related kidney disease (IgG4-RKD+) and extrarenal IgG4-related disease (IgG4-RKD−) in a large Chinese cohort, as well as describing the radiological and pathological features of IgG4-RKD+. We retrospectively analyzed the medical records of 470 IgG4-related disease (IgG4-RD) patients at Peking University People’s Hospital from January 2004 to January 2020. The demographic, clinical, laboratory, radiological and pathological characteristics between IgG4-RKD+ and IgG4-RKD− were compared. Twenty IgG4-RD patients who had definite etiology of renal impairment including diabetes, hypertension and etc. were excluded. Among the remained 450 IgG4-RD patients, 53 were diagnosed with IgG4-RKD+ . IgG4-RKD+ patients had older age at onset and at diagnosis. Male to female ratio of IgG4-RKD+ patients is significantly higher. In the IgG4-RKD+ group, the most commonly involved organs were salivary gland, lymph nodes and pancreas. It was found that renal function was impaired in approximately 40% of IgG4-RKD+ patients. The most common imaging finding is multiple, often bilateral, hypodense lesions. Male sex, more than three organs involved, and low serum C3 level were risk factors for IgG4-RKD+ in IgG4-RD patients. These findings indicate potential differences in pathogenesis of these two phenotypes.

scholarly journals Analysis of Three Primary mtDNA Mutations in 155 Patients with Leber’s Hereditary Optic Neuropathy

2020 ◽  
Author(s):  
Yan-Jiao Yao ◽  
Xue-Mei Zhuang ◽  
Fan Zheng
Keyword(s):  
Optic Neuropathy ◽  
Age At Onset ◽  
Leber’S Hereditary Optic Neuropathy ◽  
Inherited Disease ◽  
Leber's Hereditary Optic Neuropathy ◽  
Clinical Genetic ◽  
Mtdna Mutations ◽  
Functional Variants ◽  
History Of ◽  
Hereditary Optic Neuropathy

Abstract Background: Leber’s Hereditary Optic Neuropathy (LHON) is a maternal inherited disease caused by mitochondrial DNA (mtDNA) mutations. The aim of the current study is to analysis the frequencies of mitochondrial ND1 G3460A, ND4 G11778A and ND6 T14484C mutations in patients with LHON.Methods: Our study enrolled 155 patients with LHON and 83 controls, PCR-Sanger sequencing was performed to screen the presence of these primary mutations. Moreover, we performed clinical, genetic and molecular characterizations of five Chinese families carrying LHON-related three primary mutations.Results: 28 patients with G3460A (18.1%), 86 patients with G11778A (55.5%) and 32 patients carrying T14484C mutation (20.6%) were identified. However, none of these primary mutations were identified in controls. Among them, one patient carrying G3460A, two patients with G11778A and two patients with T14484C mutation had an obvious family history of LHON. Clinical evaluation of these pedigrees showed the variable clinical phenotypes with different age at onset of LHON. Sequence analysis of the complete mtDNA genes from the matrilineal relatives suggested the presence of these primary mutations. However, the lack of any functional variants in mtDNA genes revealed that mitochondrial haplogroups or haplotypes may not play important roles in the clinical phenotypic manifestation of LHON-associated primary mutations.Conclusions: Our data indicated that screening for the mtDNA primary mutations was necessary for early detection, prevention and diagnosis of LHON.

scholarly journals An observational study of clinicoetiological profile of stroke patients in a new tertiary care hospital in North Odisha, India

2019 ◽  
Vol 7 (8) ◽  
pp. 3095
Author(s):  
Bibhu P. Behera ◽  
D. N. Maharana ◽  
Partha S. Mohanty
Keyword(s):  
Risk Factor ◽  
Hemorrhagic Stroke ◽  
Clinical Presentation ◽  
Age Group ◽  
Common Risk Factor ◽  
Anterior Circulation ◽  
Female Ratio ◽  
Common Clinical Presentation ◽  
Male To Female ◽  
The Brain

Background: Stroke is one of the leading causes of morbidity and mortality in India. The objective was to study the clinical profile, risk factors, neurological characters, pattern of brain stroke, areas of brain affected as per CT scan findings in patients with stroke.Methods: This observational study was carried out from June 2018 to Jan 2019 of all new patients admitted with stroke in Pandit Raghunath Murmu Medical College and Hospital, Baripada, Mayurbhanj, Odisha, India.Results: The incidence of stroke is maximum in 46-60 years of age group. The average age+SD was 59.3+13.5 in our study. 274 (46.52%) patients had ischemic stroke and 315 (53.48%) patients had hemorrhagic stroke. The male to female ratio was 1.46:1. Anterior circulation (86.42%) was the most common territory involved in the brain. The most common risk factor was hypertension with 77.76% followed by dyslipidemia (53.99%). The most common clinical presentation was hemiplegia (85.23%).Conclusions: The incidence of stroke is maximum in 46-60 years of age group. The average age+SD was 59.3+13.5 in our study. 274 (46.52%) patients had ischemic stroke and 315 (53.48%) patients had hemorrhagic stroke. The male to female ratio was 1.46:1. Anterior circulation (86.42%) was the most common territory involved in the brain. The most common risk factor was hypertension with 77.76% followed by dyslipidemia (53.99%). The most common clinical presentation was hemiplegia (85.23%). 

scholarly journals Clinicopathological Profile of Rhabdomyosarcoma in Children

2012 ◽  
Vol 30 (3) ◽  
pp. 132-136
Author(s):  
Umme Habiba Begum ◽  
Afiqul Islam
Keyword(s):  
Head And Neck ◽  
Neck Region ◽  
Mass Lesion ◽  
Female Ratio ◽  
Head And Neck Region ◽  
Clinicopathological Profile ◽  
Common Clinical Presentation ◽  
The Common ◽  
Medical University ◽  
Male To Female

Objectives: To describe the clinical profile as well as  histopathological sub-types of Rhabdomyosarcoma in  children.Methods: A hospital base prospective observational study  was conducted among 20 diagnosed cases of  Rhabdomyosarcoma in children, those attending in  Hemato-Oncology department of Bangabandhu Sheikh  Mujib Medical University (BSMMU), Dhaka in the period  between January to December 2009.Results: The peak incidence of Rhabdomyosarcoma was  in 1-5 years of age group (n=9, 45%) with mean age 6.83  years with male to female ratio 5.66:1. The common sites  of primary tumor was in head and neck region (40%, n=08),  followed by genito-urinary tract, 30% (n=06), extremities  20% (n=04), trunk 10% (n=02). The most common clinical  presentation was mass lesion 100% (n=20), followed by local  pain 25% (n=05), urinary obstructions 15% (n=03)  dysphagia, chronic otorrhea, dysuria, haematuria, and  proptoses were 10% each (n=02, each); The histological  sub-types were Embryonal 60% (n=12), alveolar 30% (n=6),  and Botryoid 10% (n=02); Of Embryonal variety in head  and neck region 58.33% (n=7), and Genito-urinary sites  41.67% (n=5); of Alveolar variety in trunk 66.67% (n=4),  and in extremities33.33% (n=2), of Botryoid sub-type  frequency was equal in head - neck region and genitourinary  site 50% each (n=1).Conclusion: Children with Rhabdomyosarcoma presented mostly in 1 to 5 years of age, with mass lesion (100%),  predominantly in head and neck region (40%) and the  commonest histological sub-type was Embryonal variety  (60%). DOI: http://dx.doi.org/10.3329/jbcps.v30i3.12461 J Bangladesh Coll Phys Surg 2012; 30: 132-136

scholarly journals Clinicoepidemiological Trends and Features of Epidermophyton floccosum Infections in Korea: Between Year 1998~2007 and 2008~2019

2020 ◽  
pp. 57-61
Author(s):  
Kyung Duck Park ◽  
Eun Hye Lee ◽  
Seon Hwa Lee ◽  
Nam Kyoung Ha ◽  
Yong Jun Bang ◽  
...  
Keyword(s):  
Clinical Features ◽  
Tinea Pedis ◽  
Age At Onset ◽  
Fungal Culture ◽  
Age Group ◽  
Female Ratio ◽  
Epidermophyton Floccosum ◽  
Tinea Unguium ◽  
Low Incidence ◽  
Male To Female

Background: The knowledge of the clinical features and changing epidemiology of dermatophytes helps in better managing them. Objective: This study investigated the recent epidemiologic characters of Epidermophyton floccosum from January 2008 to December 2019 and attempted to compare these with previous studies. Methods: The current study included 57 patients who visited our clinic and were diagnosed with E. floccosum infection through fungal culture between January 2008 and December 2019. Data on the date of visit, gender, age at onset, and site of infection were collected through a review of medical charts and were compared with previously reported studies. Results: The frequency of isolation of E. floccosum decreased gradually, and the infections caused by E. floccosum were 33 cases of tinea cruris, 20 of tinea pedis, and 2 each of tinea corporis and tinea unguium. The male to female ratio was 10.4:1, and most infections occurred in the 10~29 year age group. Conclusion: E. floccosum infections in Korea have been decreasing rapidly since 1987. However, the clinical features of E. floccosum infections remained unchanged even at a low incidence.

Evaluating the IHS Criteria for Cluster Headache – a Comparison between Patients Meeting all Criteria and Patients Failing One Criterion

Cephalalgia ◽  
2006 ◽  
Vol 26 (3) ◽  
pp. 241-245 ◽  
Author(s):  
JA van Vliet ◽  
PJE Eekers ◽  
J Haan ◽  
MD Ferrari ◽  
Keyword(s):  
Cluster Headache ◽  
International Headache Society ◽  
Age At Onset ◽  
Circadian Rhythmicity ◽  
Response To Treatment ◽  
Attack Frequency ◽  
Female Ratio ◽  
Attack Pattern ◽  
Ihs Criteria ◽  
Male To Female

Cluster headache (CH) is diagnosed according to criteria of the International Headache Society (IHS), but, in clinical practice, these criteria seem too restrictive. As part of a nation-wide study, we identified a group of patients who met all criteria minus one (IHS-CH-1), and assessed in which way they differed from CH patients meeting all criteria (IHS-CH). We performed a nation-wide questionnaire study for CH and CH-like syndromes, including questions based on the IHS criteria, and additional features such as restlessness during attacks, nocturnal onset of attacks, circadian rhythmicity of attacks and response to treatment. IHS-CH and IHS-CH-1 patients were compared. Of 1452 responders to two questionnaires, 1163 were IHS-CH and 289 were IHS-CH-1. The majority of the IHS-CH-1 patients were classified as such because their attacks exceeded 3 h (64%, median attack duration: 5 h), or came in a frequency of less than 1 per 2 days (16%). Age at onset was similar between the groups. The male to female ratio was 3.7 : 1 in the IHS-CH group and around 1.6 : 1 in the IHS-CH-1 groups ( P < 0.005). Patients with attacks exceeding 3 h less often reported a circadian rhythmicity (IHS-CH-1: 49%, IHS-CH: 64%), episodic periodicity (IHS-CH-1: 65%, IHS-CH: 78%), nocturnal attacks (IHS-CH-1: 67%, IHS-CH: 78%), smoking (IHS-CH-1: 90%, IHS-CH: 80%) and restlessness during attacks (IHS-CH-1: 64%, IHS-CH: 76%) than IHS-CH patients ( P < 0.005). Photo- or phono-phobia (IHS-CH-1: 67%, IHS-CH: 54%) and nausea (IHS-CH-1: 38%, IHS-CH: 27%) were more frequently reported by patients who reported to have attacks exceeding 3 h ( P < 0.005). Similar proportions reported effect of verapamil on their attacks (IHS-CH-1: 54%, IHS-CH 61%). We conclude that average attack duration exceeding 3 h was frequently the reason for not fulfilling IHS CH criteria. Symptoms often accompanying CH such as restlessness, nocturnal attacks and an episodic attack pattern were relatively frequently present in IHS-CH-1 patients with longer attacks. These patients may therefore be diagnosed with CH. Attack frequency may not be a useful criterion for the diagnosis of CH. The upper limit of 3 h should be increased in future diagnostic criteria.

scholarly journals Predictors for the recurrent febrile seizures after the first complex febrile seizures

2016 ◽  
Vol 46 (5) ◽  
pp. 204
Author(s):  
Conny Tanjung ◽  
Irawan Mangunatmadja ◽  
Sudigdo Sastroasmoro ◽  
I. Budiman
Keyword(s):  
Body Temperature ◽  
Cox Regression ◽  
Age At Onset ◽  
Febrile Seizures ◽  
Bivariate Analysis ◽  
Female Ratio ◽  
Predictors Of Recurrence ◽  
The Family ◽  
The Mean ◽  
Male To Female

Background Complex febrile seizures (CFS) have been shownto be related to recurrence and epilepsy. Many studies were doneto determine the predictors of recurrence in both simple and com-plex febrile seizures. To our knowledge until now there is no pub-lished data that specially looks for predictors of recurrence after afirst CFS.Objective To find out clinical and demographical characteristicsof a first CFS and to define the predictors for the recurrent febrileseizures.Methods Prospective survival analysis study was done in chil-dren with first CFS who visited Cipto Mangunkusumo Hospital,Jakarta, over 14 months periods. The predictors for developmentof recurrence were analyzed by SPSS for Windows 11.5 usingKaplan-Meier test and Cox regression model with a level of signifi-cance <0.05.Results There were 62 subjects completed this study. Male-to-female ratio was 1.4:1. The mean age at onset was 18.2 months.Recurrence occurred in 9 subjects (14.5%). Body temperaturebetween 38-38.5°C (7 of 26 subjects, P=0.02), upper motor neu-ron type of delayed development (3 of 7 subjects, P=0.03), andepileptic history in the family (2 of 2 subjects, P<0.05) were asso-ciated with recurrence in bivariate analysis. In multivariate analy-sis only body temperature between 38-38.5°C (HR 1.6, 95% CI1.0;23.9) and epileptic history in the family (HR 16.9, 95% CI2.8;101.4) were identified as predictors.Conclusion Low body temperature at the first seizures and epi-leptic history in the family were independent predictors for the re-currence after a first CFS

scholarly journals Maxillofacial Fractures Surgically Managed at Aalesund Hospital between 2002 and 2009

2015 ◽  
Vol 8 (4) ◽  
pp. 321-325 ◽  
Author(s):  
Espen Helgeland ◽  
IdaMarie Dahle ◽  
JanInge Leira ◽  
LadoLako Loro
Keyword(s):  
Interpersonal Violence ◽  
Traffic Accidents ◽  
Adult Males ◽  
Female Ratio ◽  
Alcohol And Drugs ◽  
Complex Fractures ◽  
Maxillofacial Fractures ◽  
The Mean ◽  
Male To Female ◽  
Female Cohort

This study analyses the demographics, etiology, and complications in patients operated for maxillofacial fractures by oral and maxillofacial surgeons at the Aalesund Hospital between 2002 and 2009. A total of 188 fractures in 139 patients were studied. The male-to-female ratio was 3.6:1 and the mean age was 35.7 ± 17.2 years. Males were significantly younger than females ( p < 0.05). Mandibular (52.7%) and zygomatic complex fractures (33.5%) were the most frequent. Most patients (41.7%) sustained their injuries as a result of interpersonal violence (IPV) followed by falls (25.9%) and traffic accidents (15.8%). Significantly more males were victims of IPV ( p < 0.05). Almost half of the female cohort sustained their injuries from falling. More than half of those who sustained their injuries between midnight and morning were intoxicated. The majority of cases were treated by open reduction and internal fixation (56.8%). Posttraumatic and postoperative complications were seen in 25% of the patients, with infection (8.6%) occurring most frequently. Mandibular and zygomatic complex fractures were the most frequent in our study. IPV in association with alcohol and drugs was a major cause of maxillofacial fractures, especially among young adult males. Falls were the predominant cause of fractures among females.

scholarly journals Orbital complications of ENT diseases

2017 ◽  
Vol 4 (1) ◽  
pp. 210 ◽  
Author(s):  
Abhay Kumar ◽  
Jitendra P. S. Chauhan ◽  
Sunil K. S. Bhadouriya ◽  
Bhartendu Bharti ◽  
Prem Narain ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Vision Loss ◽  
Clinical Presentation ◽  
Surgical Intervention ◽  
Correct Diagnosis ◽  
Female Ratio ◽  
Close Proximity ◽  
Common Clinical Presentation ◽  
Orbital Complications ◽  
Male To Female

<p class="abstract"><strong>Background:</strong> Orbital complications are fairly common in Otorhinolaryngology practice because of close proximity of orbit to adjacent ENT regions. Orbital complications must be suspected whenever ENT patients present with complaints of proptosis, diplopia, vision loss and epiphora. Early diagnosis and treatment is necessary to prevent morbidity and mortality in these patients.</p><p class="abstract"><strong>Methods:</strong> This prospective study was conducted in the ENT department for a period of 1 year from August 2016 to July 2017 and comprised of 38 cases. This study was conducted to see the incidence, etiology, clinical, radiological and histopathological profile in relation to ophthalmic complications in ENT diseases.  </p><p class="abstract"><strong>Results:</strong> Male to female ratio was 1.71:1. Patients mean age at presentation in present study was 39.71±19.86 (SD) years and maximum number of cases 10 (26.32%) were between 41-50 years of age. Among 38 patients of our series, most common clinical presentation was proptosis followed by nasal obstruction. Commonest ENT diseases responsible for orbital complications were the different sinonasal tumours comprising 18 cases, in which carcinoma maxilla constituted 6 cases.</p><p><strong>Conclusions:</strong> In conclusion, correct diagnosis, adequate antibiotic therapy, and surgical intervention are important for management of orbital and ophthalmic complications. Cooperation between Ophthalmologist and the Otolaryngologist is clearly desirable for proper management of these cases.</p>

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