Retinal involvement is present at birth (LCA) or may manifest later in life. Juvenile NPH usually becomes clinically symptomatic towards the late first decade or the early second decade of life. [orpha.net]

This peculiar presentation of the MTS might be specifically associated with NPHP1 deletions, but this requires confirmation in additional cases. [jmg.bmj.com]

When a time series is analyzed, the variable observed depends on its previous period, presenting a dependable series. [scielo.br]

As with many genetic and developmental disorders, Down syndrome operates on a spectrum of presentation and can look completely different for each individual child. [kaiserslauternamerican.com]

Journal Brain Dev 36:388-93 (2014) DOI:10.1016/j.braindev.2013.06.005 Reference PMID:20728296 Authors Takahashi K, Oka A, Mizuguchi M, Saitoh M, Takita J, Sato A, Mimaki M, Kato M, Ogawa S, Igarashi T Title Interstitial deletion of 13q14.13-q32.3 presenting [genome.jp]

• Fever

  fever (EHF) is an acute viral syndrome caused by infection with one of hantaviruses. [go.gale.com]

  Transmission of haemorrhagic fever with renal syndrome in China and the role of climate factors: a review [J]. Int J Infect Dis, 2015,33:212-218. [zhjbkz.ahmu.edu.cn]

  Abstract Hemorrhagic fever with renal syndrome (HFRS) caused by hantaviruses is a serious public health problem in China, accounting for 90% of HFRS cases reported globally. [cambridge.org]

  Monthly cases of hemorrhagic fever with renal syndrome in Mainland China from 2004 to 2018. [bmcinfectdis.biomedcentral.com]

  Zhang, The epidemiological research status and problems and prospects of hemorrhagic fever with renal syndrome in China, Chin J Vector Bio & Control 13 (2) (2002) 85-88. [2] P. Guan, D.S. Huang, B.S. [js.vnu.edu.vn]

• Collapse

  While the focus of the country is on the near collapse of the health system due to the pandemic, if one looks below the surface, it must be admitted that the pre-Covid health system has been teetering on the brink of collapse for quite some time. [wired868.com]

  Promo Code: Force of Nature Katherine Watt, The Joker Gateway Pundit Reports surfaced on Tuesday that a recently hired Envoy Air pilot had collapsed and been pronounced dead shortly after taking off from Chicago O’Hare International Airport en route to [sagehana.substack.com]

• Falling

  "By Jan. 10, I was able to stand up and would strategically fall into something. I walked 100 feet and back that night. When my parents came in the next morning, I walked with a walker. That was the big turning point." [jbsa.mil]

• Abnormal Eye Movement

  A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19: 813–825. Back To Top [appliedradiology.com]

  Some of the other problems that may be associated with Joubert syndrome include eye abnormalities such as abnormal development of the retina, abnormality in the iris (coloboma), abnormal eye movements (nystagmus), crossed eyes (strabismus), and drooping [rarediseases.org]

  A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813–25 ↵ Boltshauser E, Isler W. [ajnr.org]

• Muscle Hypotonia

  Physical examination on admission at the age of 19 years revealed bilateral blephaloptosis, narrow palate, searching nystagmoid movement, absence of light reflex, muscle hypotonia and wasting of extremities. [pubmed.ncbi.nlm.nih.gov]

• Psychomotor Retardation

  The common clinical findings of three unrelated patients (two boys and one girl) included severe visual impairment from early infancy, profound psychomotor retardation, hypotonia, nystagmus, characteristic facial appearance with blepharoptosis, and progressive [ncbi.nlm.nih.gov]

  Entry H01811 Disease Name Arima syndrome Supergrp Joubert syndrome and related disorders [DS:H00530] Description Arima syndrome (AS) is a rare autosomal recessive disease characterized by severe psychomotor retardation, dysmorphic face, nystagmus, retinopathy [genome.jp]

• Asthenia

  In addition to dryness, clinical presentation of Sjögren's syndrome generally includes asthenia and arthralgia. [err.ersjournals.com]

Moderate malocclusion commonly requires treatment by an orthodontist. Orthodontists are dentists who specialize in the treatment of malocclusions and other facial irregularities. [arimadds.com]

To assess treatment failure at 3 months and 6 months. II. To assess change in symptom-based lung score at 3 months and 6 months. III. To assess change in the St. George Respiratory Questionnaire and Study Short Form 36 at 3 months and 6 months. IV. [clinicaltrials.gov]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It only seems to resolve with successful treatment of underlying malignancy.1 Diagnosis The diagnosis is mainly based on clinical characteristics as mentioned above and by exclusion of other associated conditions. [gmjournal.co.uk]

However, no previous reports have described HCC occurrence after treatment of RS3PE syndrome. We report the case of an elderly patient diagnosed with HCC three years after the diagnosis of RS3PE syndrome. [jmaj.jp]

PMID: 20615230Free PMC Article Prognosis Brancati F, Dallapiccola B, Valente EM Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article [ncbi.nlm.nih.gov]

Her long-term prognosis is unknown, because a diagnosis is difficult to get to. This could come up again. There are a lot of question marks as to what will happen." [woundedwarrior.af.mil]

In that study, Sjögren's syndrome patients with UIP were younger with higher FVC at diagnosis and had a better prognosis than those with idiopathic pulmonary fibrosis [102]. [err.ersjournals.com]

Prognosis and Follow-Up CANDLE patients have a variable outcome. Some patients have had a lethal course due to acute attacks of inflammation in important organs of the body. [frontiersin.org]

Etiology About 50% of patients carry mutations in the CEP290 gene (12q21.33), transmitted in an autosomal recessive manner. [orpha.net]

[…] developmental delay Gray matter heterotopia Hypoplasia of the brainstem Intellectual disability, progressive Intellectual disability, severe Joubert syndrome Molar tooth sign on MRI Occipital meningocele Abnormality of the respiratory system Dyspnea Tachypnea Etiology [ncbi.nlm.nih.gov]

Despite the unknown etiology of RS3PE, several reports have described the putative association of this disease with malignant tumors. [jmaj.jp]

Methods The data of HFRS epidemic and meteorological data in Guangdong were collected and the descriptive epidemiology was conducted, the Autoregressive Integrated Moving Average(ARIMA) model using SPSS 19.0 were analyzed between the epidemiological feature [zhjbkz.ahmu.edu.cn]

Nakamura H; Field Epidemiology Training Program, National Institute of Infectious Diseases, Tokyo, Japan. Serizawa Y; Field Epidemiology Training Program, National Institute of Infectious Diseases, Tokyo, Japan. [pesquisa.bvsalud.org]

Summary Epidemiology Prevalence is unknown. [orpha.net]

DBs ICD-11: LD20.0Y ICD-10: Q04.3 MeSH: C537430 OMIM: 243910 Reference PMID:23845172 Authors Itoh M, Iwasaki Y, Ohno K, Inoue T, Hayashi M, Ito S, Matsuzaka T, Ide S, Arima M Title Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological [genome.jp]

Our study focused on the spatial and temporal epidemiology of HFRS in mainland China; the dataset was large and accurate. [cambridge.org]

[…] described the first case of RS3PE characterised by symmetrical distal synovitis and tenosynovitis of the mucous sheaths of the flexor and extensor tendons of the hands associated with pitting oedema of the hands and/or feet.3 Disease process The exact pathophysiology [gmjournal.co.uk]

Pathophysiology of CANDLE syndrome. (A) Normal state. After viral infection, type 1 interferons (IFNs) are released by the infected cell. [frontiersin.org]

Pathophysiology of Sjögren's syndrome Like other autoimmune diseases, the aetiopathogenesis of Sjögren's syndrome combines environmental factors such as viruses (cytomegalovirus, HIV, Human T-cell leukaemia virus, and hepatitis C virus) [9] or solvents [err.ersjournals.com]

Thus, epidemic modeling and forecasting can be essential tools to prevent and control HFRS. [go.gale.com]

This study could provide valuable information for the hygiene authorities to design and implement effective measures for the control and prevention of HFRS. [cambridge.org]

We support continued international dialogue and collaboration on the establishment of trusted global digital health networks as part of the efforts to strengthen prevention and response to future pandemics, that should capitalize and build on the success [sagehana.substack.com]

Surveillance and early notice were important for the prevention of infectious disease outbreaks. Therefore, developing epidemiological models and making forecasts are useful for the prevention and management of COVID-19. [link.springer.com]

The XGBoost model also draws on the idea of random forest, introducing row sampling and column sampling that can reduce the amount of calculation and prevent overfitting. Moreover, it introduces the early-stopping mechanism to prevent overfitting. [bmcinfectdis.biomedcentral.com]