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European Journal of Medical Genetics Oct 2023Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the AP1B1 gene....
Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the AP1B1 gene. So far, nine patients have been reported in the literature and more clinical descriptions are essential to further delineate the phenotype of KIDAR. Here we report a new patient with KIDAR and compare the clinical findings with those from the other published cases with molecular confirmation. We describe a 14-year-old male born to non-consanguineous parents with unremarkable family history. The patient had fetal ascites, neonatal pancreatic insufficiency with consequent failure to thrive, feeding difficulties, recurrent infections and sepsis. The skin examination was remarkable for an ichthyosis with conspicuous palmoplantar keratoderma, sparse and brittle hair with alopecia on the vertex and slight bilateral ectropion. He had short stature, thin build, frontal bossing, small teeth and prominent abdomen. Additional features were congenital profound bilateral sensorineural deafness, photosensitivity and photophobia. Mild global developmental delay was noted. Persistent mild anemia, neutropenia, thrombocytopenia, and low serum copper, ceruloplasmin and growth hormone were also present. Brain magnetic resonance imaging (MRI) showed cerebral atrophy and thin corpus callosum. Genetic testing revealed a homozygous deletion in the AP1B1 gene, possibly including the same exons as a previously reported deletion. Comparing the phenotypes of all reported individuals, they are highly concordant and major features are enteropathy with feeding difficulties, failure to thrive, ichthyosis, palmoplantar keratoderma, sensorineural deafness and sparse and brittle hair. Here we report other features present in more than one patient that could be part of the phenotypic spectrum and suggest copy number variation analysis to be performed alongside sequencing of the AP1B1 gene in case of suspicion.
PubMed: 37657632
DOI: 10.1016/j.ejmg.2023.104827 -
Medicine Sep 2023The last few decades have witnessed an appalling rise in several emerging and re-emerging viral and zoonotic outbreaks. Amongst those emerging zoonosis, one of the...
BACKGROUND
The last few decades have witnessed an appalling rise in several emerging and re-emerging viral and zoonotic outbreaks. Amongst those emerging zoonosis, one of the diseases which is gaining popularity these days and has been declared as public health emergency of international concern by the world health organization, is human monkeypox virus (HMPX). Proper understanding of the clinical spectrum of the disease is of paramount importance for early diagnosis and treatment. In this review, we aimed to study and quantify the neurological manifestations of HMPX virus infection.
METHODS
Any study, released prior to April 13, 2023, that reported neurological manifestations in patients infected by HMPX virus were reviewed systematically on PubMed, Scopus, Google Scholar, and Cochrane Library using the PRISMA (Preferred Reporting Items for Systematic review and Meta-Analysis) statement.
RESULTS
Our systematic review included data from 22 eligible studies: 10 cohort studies, 3 cross sectional studies, one retrospective study, 5 case series, and 2 case reports. The most commonly reported neurological manifestations of HMPX were headache (48.84%), myalgia (27.50%), fatigue (17.73%), and photophobia (4.43%). Uncommonly, HMPX can also present with visual deficit (0.57%), seizure (0.34%), encephalitis (0.8%), dizziness (0.34%), encephalomyelitis (0.23%), coma (0.11%), and transverse myelitis (0.11%).
DISCUSSIONS
Monkeypox virus usually presents with self-limiting painful rash, lymphadenitis, and fever, complications like secondary skin infection, eye problems and pneumonia can be life threatening, carrying a case fatality rate of 1% to 10%. Neurological manifestations are not uncommon and can further add-on to morbidity and mortality.
Topics: Humans; Coinfection; Cross-Sectional Studies; Mpox (monkeypox); Monkeypox virus; Public Health; Retrospective Studies
PubMed: 37657009
DOI: 10.1097/MD.0000000000034664 -
Journal of Clinical Pharmacology Dec 2023A large number of studies have evaluated the efficacy of low-dose atropine in preventing or slowing myopic progression. However, it is challenging to evaluate the ocular... (Meta-Analysis)
Meta-Analysis
A large number of studies have evaluated the efficacy of low-dose atropine in preventing or slowing myopic progression. However, it is challenging to evaluate the ocular safety from these studies. We aimed to evaluate the incidence of adverse events induced by atropine in children with myopia. We performed a systematic literature search in several databases for studies published until November 2022. The incidence of adverse events induced by atropine was pooled by a common-effect (fixed-effect) or random-effects model. Subgroup analyses were conducted according to drug doses, types of adverse events, and ethnicity. A total of 31 articles were ultimately included in the study. The overall incidence of adverse events for atropine was 5.9%, and the incidence of severe adverse events was 0.0%. The most commonly reported adverse events were photophobia (9.1%) and blurred near vision (2.9%). Other adverse events including eye irritation/discomfort, allergic reactions, headache, stye/chalazion, glare, and dizziness occurred in less than 1% of the patients. The incidence of atropine-induced adverse events varied depending on the drug doses. A lower dose of atropine was associated with a lower incidence of adverse events. There was no significant difference in the incidence of adverse events for low-dose atropine between Asian and White children. Our study suggests photophobia and blurred near vision are the most frequently reported adverse events induced by atropine. Low-dose atropine is safer than moderate- and high-dose atropine. Our study could provide a safe reference for ophthalmologists to prescribe atropine for myopic children.
Topics: Humans; Child; Atropine; Mydriatics; Photophobia; Incidence; Disease Progression; Myopia; Ophthalmic Solutions
PubMed: 37492894
DOI: 10.1002/jcph.2320 -
Asia-Pacific Journal of Ophthalmology...The purpose of this study was to pool the prevalence rate of monkeypox-associated eye manifestations and/or complications during the current and previous outbreaks. (Meta-Analysis)
Meta-Analysis
PURPOSE
The purpose of this study was to pool the prevalence rate of monkeypox-associated eye manifestations and/or complications during the current and previous outbreaks.
DESIGN
A systematic review and meta-analysis.
MATERIALS AND METHODS
On August 7, 2022, PubMed, Scopus, Web of Science, EMBASE, and Google Scholar were searched for relevant articles. We included all studies that reported the involvement of the eye (either as a manifestation or a complication) among patients with monkeypox. The primary outcome included pooling the effect size (ES) of reported manifestations and complications, and the secondary outcome included the conduct of a subgroup analysis based on the timing of the monkeypox outbreak (before vs. during 2022).
RESULTS
Eleven studies reporting 3179 monkeypox-confirmed cases were included. Eye manifestations included conjunctivitis, corneal, conjunctival, and eyelid lesions, photophobia, and eye pain. Compared with previous monkeypox outbreaks, the current outbreak revealed much lower rates of ocular involvement in terms of conjunctivitis (ES=1%; 95% CI: 0%-1% vs. ES=17%; 95% CI: 11%-22%), corneal and conjunctival lesions (ES=1%; 95% CI: 0%-2% vs. ES=13%; 95% CI: 4%-22%), and eyelid lesions (ES=1%; 95% CI: 0%-4% vs. ES=13%; 95% CI: 5%-28%). Monkeypox-associated eye complications were reported only in the previous outbreaks which included keratitis (ES=4%; 95% CI: 3%-6%), corneal ulceration (ES=4%; 95% CI: 2%-5%), unilateral (ES=3%; 95% CI: 1%-4%) and bilateral blindness (ES=0%; 95% CI: 0%-2%), and impaired vision (ES=4%; 95% CI: 1%-8%).
CONCLUSIONS
Ophthalmic manifestations and complications are common among monkeypox-confirmed cases. Although these data are mainly related to previous outbreaks, health care workers should familiarize themselves with these signs to provide better care for monkeypox patients.
Topics: Humans; Mpox (monkeypox); Conjunctiva; Disease Outbreaks; Conjunctivitis; Keratitis
PubMed: 37249903
DOI: 10.1097/APO.0000000000000608 -
Cureus Mar 2023This systematic scoping review aims to answer questions related to the main characteristics of primary headache, the need for neuroimaging, and the presence of red flags... (Review)
Review
This systematic scoping review aims to answer questions related to the main characteristics of primary headache, the need for neuroimaging, and the presence of red flags in these patients. A review of prospective studies including the MEDLINE/PubMed, Scopus, LILACS, and SCIELO databases, as well as the grey literature, was conducted. The methodological quality of the selected investigations was also assessed. Six investigations met the selection criteria. The mean age of people with primary headache was less than 43 years, with ages ranging from 39 to 46 years. Most of the studies reported the presence of nausea/vomiting, between 12% and 60% of the patients studied. To a lesser extent, there was also the presence of intense and moderate pain, loss of consciousness, stiff neck, presence of aura, and photophobia. The most frequent diagnoses were unspecified headache, migraine, and tension headache. The studies did not recommend neuroimaging and no red flags were reported. Primary headache occurred more frequently in women, in those under 46 years of age with a history of migraine and similar episodes. Moreover, the presence of red flags and the need for neuroimaging in patients with primary headaches were not evidenced.
PubMed: 37065368
DOI: 10.7759/cureus.36131 -
Survey of Ophthalmology 2023Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular...
Congenital aniridia is a rare, panocular disorder with a main phenotypic characteristic of a partial or complete absence of the iris existing alongside other ocular morbidities such as cataract, keratopathy, optic nerve and foveal hypoplasia, and nystagmus. The iris abnormality, however, often leads to symptoms such as photophobia, glare, and decreased visual acuity, as well as cosmetic dissatisfaction. Current management options for the iris deficit include colored iris contact lenses, corneal tattooing, and tinted contact lenses. Symptoms arising from small iris defects can be resolved with surgical management using micro-tying suture techniques such as McCannel or Siepser. Currently, larger iris defects can be treated with artificial iris implants. New prosthetic options range from colored intraocular lenses to flexible custom-made silicone iris implants. With a range of therapeutic options available and given the challenges of multiple comorbidities in aniridia, we evaluate the literature relating to the use of artificial iris implants in congenital aniridia, with a focus on the different surgical implantation techniques, the clinical outcomes achieved, complications occurred, and risk of bias of the studies included.
Topics: Humans; Visual Acuity; Aniridia; Iris; Lenses, Intraocular; Prosthesis Implantation; Vision Disorders
PubMed: 36379301
DOI: 10.1016/j.survophthal.2022.11.001 -
Dystonia (Lausanne, Switzerland) 2022Blepharospasm is a type of dystonia where the diagnosis is often delayed because its varied clinical manifestations are not well recognized. The purpose of this study...
OBJECTIVE
Blepharospasm is a type of dystonia where the diagnosis is often delayed because its varied clinical manifestations are not well recognized. The purpose of this study was to provide a comprehensive picture of its clinical features including presenting features, motor features, and non-motor features.
METHODS
This was a two-part study. The first part involved a systematic literature review that summarized clinical features for 10,324 cases taken from 41 prior reports. The second part involved a summary of clinical features for 884 cases enrolled in a large multicenter cohort collected by the Dystonia Coalition investigators, along with an analysis of the factors that contribute to the spread of dystonia beyond the periocular region.
RESULTS
For cases in the literature and the Dystonia Coalition, blepharospasm emerged in the 50s and was more frequent in women. Many presented with non-specific motor symptoms such as increased blinking (51.9%) or non-motor sensory features such as eye soreness or pain (38.7%), photophobia (35.5%), or dry eyes (10.7%). Non-motor psychiatric features were also common including anxiety disorders (34-40%) and depression (21-24%). Among cases presenting with blepharospasm in the Dystonia Coalition cohort, 61% experienced spread of dystonia to other regions, most commonly the oromandibular region and neck. Features associated with spread included severity of blepharospasm, family history of dystonia, depression, and anxiety.
CONCLUSIONS
This study provides a comprehensive summary of motor and non-motor features of blepharospasm, along with novel insights into factors that may be responsible for its poor diagnostic recognition and natural history.
PubMed: 36248010
DOI: 10.3389/dyst.2022.10359 -
The International Journal of... Jun 2024The efficacy of ubrogepant 50 mg versus 100 mg daily for migraine remained controversial. We conducted a systematic review and meta-analysis to compare the efficacy... (Meta-Analysis)
Meta-Analysis
The efficacy of ubrogepant 50 mg versus 100 mg daily for migraine remained controversial. We conducted a systematic review and meta-analysis to compare the efficacy and safety of ubrogepant 50 mg versus 100 mg daily on treatment in migraine patients. We have searched PubMed, EMbase, Web of science, EBSCO, Cochrane library databases and SCOPUS through 21 March 2022 for randomized controlled trials (RCTs) assessing the effect of ubrogepant 50 mg versus 100 mg on treatment efficacy in migraine patients. This meta-analysis was performed using the random-effect model. Three RCTs were included in the meta-analysis. Overall, compared with ubrogepant 100 mg in migraine patients, ubrogepant 50 mg obtained comparable pain freedom at 2 h (OR = 0.86; 95% CI = 0.64-1.15; = 0.310), sustained pain freedom 2-24 h (OR = 0.76; 95% CI = 0.54-1.07; = 0.110), photophobia absence at 2 h (OR = 0.80; 95% CI = 0.63-1.02; = 0.070), phonophobia absence at 2 h (OR = 1.07; 95% CI = 0.82-1.40; = 0.620) and nausea absence at 2 h (OR = 1.02; 95% CI = 0.79-1.32; = 0.880). In terms of safety, adverse events were found to be increased in ubrogepant 100 mg as compared to ubrogepant 50 mg (OR = 0.81; 95% CI = 0.67-0.99; = 0.040), and there was no statistical difference of serious adverse events between two groups (OR = 0.87; 95% CI = 0.40-1.91; = 0.720). Ubrogepant 50 mg and 100 mg may be equally effective to alleviate migraine, but ubrogepant 100 mg led to increase incidence of adverse events.
Topics: Humans; Migraine Disorders; Nausea; Pain; Pyridines; Pyrroles; Treatment Outcome
PubMed: 35999672
DOI: 10.1080/00207454.2022.2090351 -
Cephalalgia : An International Journal... Nov 2022Visual Snow Syndrome is a recently recognized neurological condition presenting, continuous, tiny dots across the entire visual field, accompanied by nyctalopia,...
BACKGROUND
Visual Snow Syndrome is a recently recognized neurological condition presenting, continuous, tiny dots across the entire visual field, accompanied by nyctalopia, photophobia and palinopsia that persist for months. It may be part of migraine aura spectrum, yet its definition is still questionable. Diagnostic criteria for Visual Snow Syndrome are included in the supplemental material of ICHD-3. We aimed to summarize recent data to improve the understanding of Visual Snow Syndrome.
METHODS
After presenting four new cases, we conducted a PRISMA systematic search in PubMed/MEDLINE and Embase databases using the keyword "visual snow" with specific inclusion and exclusion criteria.
RESULTS
From the 855 articles identified 30 were included for the qualitative analysis. These reports covered five aspects related to Visual Snow Syndrome: epidemiology, clinical features, comorbidities, pathophysiology, and treatment. We found limited data concerning Visual Snow Syndrome's epidemiology (one study). Clinical presentation (22 articles) and the comorbidities (migraine with aura and tinnitus most often, five reports) are described in detail. The pathophysiology of Visual Snow Syndrome is only approached with hypotheses, but several neuroimaging studies have been identified (seven articles). Treatment is based on single case reports only.
CONCLUSION
Data for Visual Snow Syndrome are few and not strong enough to support Visual Snow Syndrome as a medical identity. Further investigation is needed.
Topics: Humans; Migraine Disorders; Migraine with Aura; Neuroimaging; Photophobia; Vision Disorders
PubMed: 35945691
DOI: 10.1177/03331024221118917 -
The Journal of Headache and Pain Mar 2022Vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are used to reduce the risk of developing Coronavirus Disease 2019 (COVID-19). Despite the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Vaccines against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are used to reduce the risk of developing Coronavirus Disease 2019 (COVID-19). Despite the significant benefits in terms of reduced risk of hospitalization and death, different adverse events may present after vaccination: among them, headache is one of the most common, but nowadays there is no summary presentation of its incidence and no description of its main features.
METHODS
We searched PubMed and EMBASE covering the period between January 1 2020 and August 6, 2021, looking for record in English and with an abstract and using three main search terms (with specific variations): COVID-19/SARS-CoV-2; Vaccination; headache/adverse events. We selected manuscript including information on subjects developing headache after injection, and such information had to be derived from a structured form (i.e. no free reporting). Pooled estimates and 95% confidence intervals were calculated. Analyses were carried out by vaccine vs. placebo, by first vs. second dose, and by mRNA-based vs. "traditional" vaccines; finally, we addressed the impact of age and gender on post-vaccine headache onset.
RESULTS
Out of 9338 records, 84 papers were included in the review, accounting for 1.57 million participants, 94% of whom received BNT162b2 or ChAdOx1. Headache was generally the third most common AE: it was detected in 22% (95% CI 18-27%) of subjects after the first dose of vaccine and in 29% (95% CI 23-35%) after the second, with an extreme heterogeneity. Those receiving placebo reported headache in 10-12% of cases. No differences were detected across different vaccines or by mRNA-based vs. "traditional" ones. None of the studies reported information on headache features. A lower prevalence of headache after the first injection of BNT162b2 among older participants was shown.
CONCLUSIONS
Our results show that vaccines are associated to a two-fold risk of developing headache within 7 days from injection, and the lack of difference between vaccine types enable to hypothesize that headache is secondary to systemic immunological reaction than to a vaccine-type specific reaction. Some descriptions report onset within the first 24 h and that in around one-third of the cases, headache has migraine-like features with pulsating quality, phono and photophobia; in 40-60% of the cases aggravation with activity is observed. The majority of patients used some medication to treat headache, the one perceived as the most effective being acetylsalicylic acid.
Topics: BNT162 Vaccine; COVID-19; Headache; Humans; SARS-CoV-2; Vaccination
PubMed: 35361131
DOI: 10.1186/s10194-022-01400-4