Age Of First Attack Research Articles

Review of neurological presentation and outcome in patients with mitochondrial disease

Mitochondrial disease (MitD) is the most common inborn metabolic disease in adult medical clinic. It represents a heterogenous group of disorder resulting from defective oxidative phosphorylation. Nervous system is frequently the most affected major organ system. The aim of this study is to analyse the clinical features and outcome of neurological presentation in patients with MitD. This was a retrospective review on patients diagnosed with MitD following up in an adult medical department of tertiary hospital in Hong Kong from 2002 to 2018. Details of demographic profile, clinical and laboratory investigation results were reviewed. A total of 26 patients [17 men, median age at diagnosis 27 (7 to 61)] with MitD were identified. Sixteen carried m.3243A>G MT-TL1 mutation (15 MELAS and 1 MIDD). Twenty-one patients had neurological impairment as the initial presentation, and their neurological symptoms included seizure (48%), stroke-like attack (43%), myopathy (24%) and encephalopathy (19%). Among those suffering from stroke-like attacks, their age of first attack ranged from 13y to 54y, 44% had at least one recurrence in lifetime, and majority (70%) had a favourable post-stroke neurological improvement without significant disability (mRS ≤2). Ten patients deceased during the study period, 4 (all with MELAS) of them had sudden unexpected death. Neurological impairment was the most frequent initial presentation in patients with MitD. Majority of patients suffering stroke-like attacks enjoyed a favourable recovery after the event despite a modest rate of recurrence. Nevertheless, a higher than expected rate of sudden death was observed.

Relapsing Painful Ophthalmoplegic Neuropathy: No longer a "Migraine," but Still a Headache.

Recurrent painful ophthalmoplegic neuropathy (RPON), formerly known as ophthalmoplegic migraine, is an uncommon disorder with repeated episodes of ocular cranial nerve neuropathy associated with ipsilateral headache. This review discusses the clinical presentation, current understanding of the pathophysiology, key differential diagnoses, and evaluation and treatment of RPON. The literature is limited due to the rarity of the disorder. Recent case reports and series continue to suggest the age of first attack is most often during childhood or adolescence as well as a female predominance. Multiple recent case reports and series demonstrate focal enhancement of the affected cranial nerve, as the nerve root exits the brainstem. This finding contributed to the current classification of the disorder as a neuropathy, with the present understanding that it is due to a relapsing-remitting inflammatory or demyelinating process. The link to migraine remains a cause of disagreement in the literature. RPON is a complex disorder with features of inflammatory neuropathy and an unclear association with migraine. Regardless, the overall prognosis is good for individual episodes, but permanent nerve damage may accumulate with repeated attacks. A better understanding of the pathogenesis is needed to clarify whether it truly represents a single disorder and to guide its treatment. Until that time, a combined approach with acute and preventive therapies can mitigate acute symptoms as well as attempt to limit recurrence of this disabling syndrome.

Patients With Severe Hereditary Angioedema Treated With Subcutaneous C1-Esterase Inhibitor (C1-INH [SC]) to Reduce the Incidence and Severity of Attacks: Results From a Phase 3 Trial

Background: Hereditary angioedema (HAE), caused by absolute or functional deficiency of C1-esterase inhibitor (C1-INH), is characterized by recurrent, disfiguring, and potentially life-threatening attacks of subcutaneous and submucosal edema. The mean age of first attack is 10 years and earlier onset may be predictive of a more severe disease course. HAE treatment guidelines recommend on-demand (acute) therapy as standard of care for all HAE patients and prophylaxis for those with frequent and/or more disabling attacks, as well as those with inadequate response to on-demand therapy. This phase 3 trial compared twice-weekly prophylaxis …

Risk Factors of Recurrent Wheeze in Infancy

Background: Recurrent wheeze in infancy is a common clinical problem and one of the most important causes of health facility visits in Bangladesh. Recurrent wheeze is an important manifestation of bronchiolitis, pneumonia and asthma.Objectives: The study was conducted to identify the risk factors associated with recurrent wheeze in infancy.Methods: This case control study was conducted at Dhaka Shishu Hospital and Dhaka Medical College Hospital (DMCH) during August 2008- June 2009 including 50 infants (1- 12 months of age) with recurrent (3 or more) wheeze or wheeze persisting for more than one month during first year of life as study group and 50 children (12 months to 24 months of age) who had no wheeze during first year of life as control groupResults: The study group comprised of 34 (68.0%) male and 16(32.0%) female infants and control group included 31(62.0%) male and 19 (38.0 %) female children. The mean age of study group was 9 months and that of the control group was 18 months. The median age of first attack of wheeze was 4 months. Twenty one (42.0%) infants in study group and 29 (58.0%) in control group were exclusively breastfed. On the other hand, 29 (58.0%) studied cases and 21(42.0%) controls were mixed fed (formula, cow’s milk, suji along with breast milk).The study children who were exclusively breastfed had lesser incidence of recurrent wheeze than those who were mixed fed but the difference was not significant (P> 0.05). There was past history of bronchiolitis in 45 (90.0%) cases of study group in comparison to only 3 (6.0%) cases of control group (p <0.05). Past history of pneumonia was present in 15 (30.0%) cases of study group compared to only 3 (6.0%) cases of control group (P <0.05). There was history of mother’s asthma among 14 (28.0%) infants of study group versus only 1 (2.0%) mother of control group (P <0.05). There was history of father’s asthma in 8 (16.0%) cases of study group in comparison to none of control group (P<0.05). In this study we observed that 11 (22.0%) infants of study group had sibs suffering from wheeze compared to only 3 (6.0%) children of control group (<0.05). Sixteen (32.0%) infants of study group versus only 6 (12.0%) children of control group had atopic dermatitis and 33 (66.0%) cases of study group had suffered from allergic rhinitis whereas only 10 (20.0%) children had allergic rhinitis in control group (P<0.05). Atopic dermatitis and allergic rhinitis among study children were significantly associated with recurrent wheeze during infancy. Twenty (40.0%) study cases had exposure to tobacco smoke compared to 22 (44.0%) cases of control group. Exposure to tobacco smoke was not found to be associated with recurrent wheeze (P >0.05)Conclusion: The risk factors of recurrent wheeze in infancy identified in this study were past history of bronchiolitis , past history of pneumonia, asthma in parents (father and mother), wheeze in other sibs and atopic condition in children (atopic dermatitis, allergic rhinitis). Exclusively breastfed children had lesser incidence of recurrent wheeze than those who were mixed fed but the difference was not significant and exposure to tobacco smoke was not associated with recurrent wheeze in infancy in the present study.Bangladesh J Child Health 2017; VOL 41 (1) :9-14

Espectro de neuromielitis óptica: descripción de una cohorte según los criterios diagnósticos de 2015

The new 2015 criteria for neuromyelitis optica spectrum disorders (NMOSD) have been recently incorporated in the study of different international cohorts. To describe clinical-radiological characteristics and prognostic factors in patients with NMOSD according to the 2015 criteria. Retrospective analysis of 36 patients diagnosed with NMOSD according to serologic AQP4 status (positive, negative, unknown and negative + unknown). Clinical and radiological characteristics were compared and possible disability prognostic factors were evaluated. AQP4 were positive in 7 patients, negative in 12 and unknown in 17. Age of presentation was 36.6 ± 16 years, with higher female proportion (4:1). Mean disease duration was 7.4 ± 7.6 years. Most frequent presenting symptoms were acute myelitis (61%), optic neuritis (33%) and area postrema syndrome (11%). Most frequent MRI lesion was longitudinally extensive transverse myelitis (75%). All patients received acute treatment during attacks, and preventive treatment was used in 81% (azathioprine and rituximab mostly prescribed). Median EDSS was 2.0 at the end of follow-up. No differences were observed in any of the variables comparing serologic status. Age of first attack was prognostic, with direct correlation with EDSS. First attack in < 30 years was protective, meanwhile > 50 years old patients had increased risk of disability. The 2015 criteria allow the description and classification of NMOSD patients within different cohorts. Age of first attack seems to be a prognostic factor for developing disability.

Clinical Features and Risk Factors of Glaucomatous Change in Posner-Schlossman Syndrome

Purpose: To analyze the clinical features and determine the factors that affect glaucomatous change of patients with PosnerSchlossman syndrome (PSS). Methods: A retrospective analysis of 51 eyes of 51 patients diagnosed with PSS was performed. We analyzed the factors including age of first attack, highest intraocular pressure (IOP), duration of the disease, number of the attacks and interval between attacks among the patients who developed glaucoma and those who did not and compared the 2 groups. Results: The age of first attack was 34.73 ± 10.77 years, and highest IOP was 47.75 ± 9.43 mm Hg. Duration of the disease was 62.06 ± 69.84 months, number of the attacks was 6.20 ± 7.73 times, and interval between attacks was 12.65 ± 8.95 months. Of 51 eyes of 51 patients, 12 eyes (23.5%) of 12 patients showed significant glaucomatous change. In the glaucoma group, highest IOP was 52.81 ± 7.87 mm Hg, number of attacks was 11.91 ± 10.63 times, and interval between attacks was 8.07 ± 3.97 months. In the non-glaucomatous group highest IOP was 46.19 ± 9.14 mm Hg, number of attacks was 4.59 ± 5.94 times, and interval between attacks was 14.59 ± 9.79 months, respectively. Highest IOP was significantly greater, number of attacks was higher, and interval was shorter with statistical significance in the glaucoma group (p = 0.025, p = 0.001, p = 0.028). Conclusions: A significant number of patients with PSS tend to show glaucomatous change over time. Patients with high IOP during attacks and those having frequent attacks with short intervals should be closely monitored and evaluation for glaucomatous damage is recommended. J Korean Ophthalmol Soc 2015;56(6):938-943

The mean platelet volume levels in children with PFAPA syndrome

ObjectivesTo assess whether mean platelet volume (MPV) can be used as a marker in the differential diagnosis of periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome. MethodsThe leucocyte counts, thrombocyte counts, and MPV values of 57 children with PFAPA syndrome were recorded during an attack and an attack free period. These values were compared with a healthy control group of 55 individuals. Demographic features of the PFAPA patients group including age, gender and age of first attack, age at diagnosis, frequency of attacks, serum reactive protein (CRP) and erythrocyte sedimentation rate (ESR) were also recorded. ResultsThe MPV values of the children with PFAPA both during an attack and attack free period were found significantly lower than the MPV values of healthy control group (p<0.001). Also, the MPV values of the children with PFAPA during an attack were significantly lower than in attack free periods (p<0.001). The MPV values showed no correlation with leucocytes counts, CRP, and ESR during attacks. A 8.30fl [area under the curve (AUC: 0.965)] optimal cutoff value of MPV with a sensitivity of 89.5% and specificity of 92.8% was determined during an attack in children with PFAPA. ConclusionsThe MPV values during an attack and attack free period of patients with PFAPA is lower than in controls. The MPV values may be used as a marker in the differential diagnosis of PFAPA syndrome but more studies are needed and they should be prospective in order to validate this data.

Alopacia areata among patients attending the department of dermatology and venereology in Rizgary Teaching Hospital in Erbil

Background and objective: Alopecia areata, is an organ-specific autoimmune disease with genetic predisposition and an environmental trigger, characterized by discrete, well - demarcated area of non scaring terminal hair loss. It affects sex, children and young adults. This study aims at assessing different aspects of alopecia areata and its clinical characteristics. Methods: A descriptive study conducted during October 2006 and April 2007 on 100 patients with alopecia areata using a structured questionnaire, at the outpatient clinic of Dermatology and Venereology at Rizgary Teaching Hospital. Results: Male-to-female ratio was 2.3:1, 42% of cases had a single patchy lesion while 52% had multiple patchy lesions, 5% had Alopecia Universalis and one case had Alopecia Totalis. The scalp was involved in 82% while mustache area in only 7% of the cases. Itching and burning were positive in 8%, exclamation marks in 23% and nail involvement in 22% of cases. Ophiasis found in 13% while past history of atopy was positive only in 11% of the cases. Family history was positive in 20% of all cases while past personal history in 31% of the cases. The age of first attack in most of cases was during the first three decades of life. Conclusion: There is a significant relationship between the age of first attack and negative prognostic signs. Scalp with multiple patchy lesions was the common type of alopecia areata among our patients.

Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the autoinflammatory syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK). We conducted the current study to assess the genetic, laboratory, and clinical features as well as the complications and course of disease in patients with genetically confirmed HIDS. In addition, we studied the quality of life and course of life in a selection of patients. Follow-up data were obtained by a questionnaire sent to all physicians of patients in the International HIDS Database. In addition, we assessed the course of life and quality of life in Dutch patients aged >16 years using validated quality of life instruments. Data were obtained from 103 patients from 18 different countries. The median age of first attack was 6 months (range, 0-120 mo), with a median period of 9.9 years from onset of disease to diagnosis. The most frequent symptoms that accompanied attacks of fever were lymphadenopathy, abdominal pain, arthralgia, diarrhea, vomiting, skin lesions, and aphthous ulcers. Amyloidosis was a severe but infrequent complication (2.9%). The median serum IgD level was 400 U/mL. IgD levels were normal in 22% of patients. The 4 most prevalent mutations (V377I, I268T, H20P/N, P167L) accounted for 71.5% of mutations found. The frequency of attacks decreased with the patient's increasing age, although 50% of patients over the age of 20 years still had 6 or more attacks per year. Many drugs have been tried in HIDS. Some patients responded to high-dose prednisone (24.4% response). Anakinra and etanercept can also be effective (33.3% response). Quality of life was determined in a subgroup of patients (n = 28). Social functioning, general health perception, and vitality were significantly lower in patients with HIDS than in controls, as were autonomy and social development. In addition, HIDS had an adverse impact on educational achievements and employment status. In conclusion, HIDS is an early-onset disease that is accompanied by an array of inflammatory symptoms. Although the frequency of attacks decreases during the patient's life, many patients continue to have frequent attacks. HIDS impairs several aspects of quality of life.

Maternal deprivation, acute respiratory infections and immune regulation

The study was designed to investigate the acute respiratory disease incidence (DI) in deprived infants and test the hypothesis if maternal deprivation effects the processes of immunoregulation in infants. The prospective study during 1 year in Tbilisi Infant's House was performed. Cohort of 136 infants at age from 1 to 24 months without any congenital abnormalities formed the basic group. The cohort of 136 healthy infants at age 1 to 24 months of the same population living under the maternal care in three shelters of Tbilisi region was randomized as a control. The study included: DI, age of first attack, duration of illness, outcome, plasma immune parameters. The data have demonstrated that maternal deprivation induces a marked increase in the severity of acute respiratory disease among infants. DI was twice as much in deprived children as in control group. Moreover, there was diagnosed the disruption of normal correlations between plasma CD3, CD4 and CD8 in infants under maternal deprivation. Maternal deprivation induces changes in processes of immunoregulation in infants resulted in elevation of acute respiratory DI among them.

Do seasonal priming effects in the first months of life influence development of middle ear disease?

A history of acute otitis media (AOM) often precedes development of otitis media with effusion (OME); where that history pre-dates the first birthday an increased risk has been demonstrated previously. The possibility of establishing a critical period of susceptibility to the priming attack of AOM is explored using a large national database. The complete GP histories of 7510 children born in the year beginning October 1989 and followed until their fifth year of life, within practices representative of England and Wales, permit examination of the following risk factors: history of asthma, eczema and hayfever; type and timing of all middle-ear-related conditions; upper respiratory tract infections; reported snoring; sex. The following risk factors were confirmed: sex, atopy (in particular hayfever), nose, chest and throat infections (particularly chest), and reported snoring. Age of first attack of AOM was the strongest indicator of subsequent OME. Risk decreased with increased age. Different age groups were examined in 3-month bands and a critical period could be detected covering the first 9 months of life. Risk of subsequent OME varied slightly by season of first AOM, particularly within the critical period. Children born in spring appeared to be at highest risk.

High prevalence of isolated sleep paralysis: kanashibari phenomenon in Japan.

In Japan, a set of experiences called kanashibari is considered identical with isolated sleep paralysis. We investigated this phenomenon by means of a questionnaire administered to 635 college students (390 men and 245 women). Of all subjects, about 40% had experienced at least one episode of kanashibari [subjects of K(+)]. Therefore, isolated sleep paralysis is apparently a more common phenomenon than is usually appreciated. About half of the subjects of K(+) reported that they had been under "physical or psychological stress" or in a "disturbed sleep and wakefulness cycle" immediately before the episode. Many subjects of K(+) experienced the first episode in adolescence. In the distribution of age of first attack, the peak occurred at an earlier age in women subjects than in men subjects. These findings suggest that two factors influence the occurrence of the phenomenon. One is exogenous physical or psychological load and the other is endogenous biological development.