Evidence map›Paper›PMID 27570397›Full record

ArticleAnnals of Indian Academy of Neurology

Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature.

Lokesh Lingappa, Nikit Shah, Ananth Sagar Motepalli, Farhan Shaik

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 79% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Exploring the relationship betweenFrontiers in neuroscience · 2023
    Pooled it
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Lokesh LingappaDepartment of Pediatric Neurology, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India.
Nikit ShahDepartment of Pediatric Neurology, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India.
Ananth Sagar MotepalliDepartment of Pediatric Critical Care, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India.
Farhan ShaikDepartment of Pediatric Critical Care, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India.
Rainbow Children's Hospital · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.

Indexed as

Atrophyautosomal recessivediaphragmatic spinal muscular atrophydistal spinal muscular atrophymuscular atrophyneuronopathyneuronopathy severe infantile axonal with respiratory failureSMARD1SpinalType VI

Identifiers

PMID27570397
PMCPMC4980968
OpenAlexW2489431683

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-SA
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.