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Edition of 29 September 2023

New Syndromes

PIP5KIγ mutations underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalling

A new study published in the American Journal of Human Genetics identified three de novo mono-allelic missense variants in PIP5K1C (a gene involved in some phosphoinositides, which control membrane composition, and play key roles in many cellular), within 9 unrelated childen who express intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. Various analyses (histology, zebra fish, etc.) demonstrate the pathogenic effect of the PIP5K1C variants.

Am J Hum Genet . 2023 Aug 3;110(8):1377-1393

SMPD4 regulates mitotic nuclear envelope dynamics, and its loss causes microcephaly and diabetes

A new study published in Brain identified bi-allelic loss-of-function variants in SMPD4 (a gene involved in membrane lipid homeostasis and nuclear interactions, via endoplasmic reticulum and nuclear envelope), within 5 individuals (from 3 unrelated families) who express insulin-dependent diabetes, besides presenting with a severe neurodevelopmental disorder and microcephaly, making diabetes one of the most frequent age-dependent non-cerebral abnormalities. Various analyses (knock-down in human and mice, histology, etc.) lead to an hypothesis on nuclear envelope bending impairment.

Brain . 2023 Aug 1;146(8):3528-3541

New genes

Congenital hydrocephalus : First reports of fetal SMARCC1 related hydrocephalus

To read more about “Congenital hydrocephalus”

Eur J Med Genet . 2023 Aug;66(8):104797

A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Genet Med . 2023 Sep;25(9):100894

ANEC (Acute necrotizing encephalopathy of childhood) : Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

To read more about “Acute necrotizing encephalopathy of childhood”

Genet Med . 2023 Sep;25(9):100897

Moyamoya disease : Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to the disease

To read more about “Moyamoya disease”

Brain . 2023 Sep 1;146(9):3616-3623

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration 2 3 Author affiliations

To read more about “Non-specific early-onset epileptic encephalopathy”

Am J Hum Genet . 2023 Aug 3;110(8):1356-1376

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Am J Hum Genet . 2023 Aug 3;110(8):1414-1435

Clinical Research

EDS III & cEDS ( Hypermobile Ehlers-Danlos syndrome & Classical Ehlers-Danlos syndrome) : Prevalence and quality of temporomandibular disorders , chronic pain and psychological distress, an exploratory study

To read more about “Hypermobile Ehlers-Danlos syndrome”
To read more about “Classical Ehlers-Danlos syndrome”

Orphanet J Rare Dis . 2023 Sep 19;18(1):294

Sickle cell disease : Prevalence and outcomes of pulmonary embolism, an analysis of the Nationwide Inpatient Sample, 2016–2020

To read more about “Sickle cell disease”

Eur J Haematol . 2023 Sep;111(3):441-448

SLE (Systemic lupus erythematosus) : Risk of End-Stage Renal Disease in Patients With SLE and Diabetes Mellitus, a Danish Nationwide Cohort Study

To read more about “Systemic lupus erythematosus”

Arthritis Care Res (Hoboken) . 2023 Sep;75(9):1871-1877

Alpha-1-antitrypsin deficiency: The prevalence of bronchiectasis, an initial report of EARCO

To read more about “Alpha-1-antitrypsin deficiency”

Orphanet J Rare Dis . 2023 Aug 12;18(1):243

Dermatomyositis : Ground-glass opacity score predicts the prognosis of anti-MDA5 positive, a single-centre cohort study

To read more about “Dermatomyositis”

Orphanet J Rare Dis . 2023 Jul 21;18(1):208

Giant cell arteritis: Age at diagnosis influences the clinical phenotype, treatment strategies and outcomes, from the observational GCAGE study on a large cohort of 1004 patients

To read more about “Giant cell arteritis”

Ann Rheum Dis . 2023 Aug;82(8):1098-1106

Hemophilia A: Barriers to prophylaxis treatment among patients and caregivers in Shandong Province (China), a descriptive qualitative study

To read more about “Hemophilia A”

Resarch Square, (2022), 1-11

Sickle cell disease : CRISPR-Cas9 Editing of the HBG1 and HBG2 Promoters

To read more about “Sickle cell disease”

N Engl J Med . 2023 Aug 31;389(9):820-832

Systemic sclerosis : Complete resolution of gastric antral vascular ectasia after autologous haematopoietic stem cell transplantation

To read more about “Systemic sclerosis”

Ann Rheum Dis . 2023 Jul;82(7):995-996

Neurofibromatosis type 1 : Clinical Trials to Prevent, Arrest, or Regress the disease, Target Product Profile

To read more about “Neurofibromatosis type 1”

J Invest Dermatol . 2023 Aug;143(8):1388-1396

Primary cutaneous T-cell lymphoma, relapsed and refractory : Phase 2, Dimethyl fumarate, a multicenter study

To read more about “Primary cutaneous T-cell lymphoma”

Blood . 2023 Aug 31;142(9):794-805

Idiopathic achalasia : Long versus short peroral endoscopic myotomy, results of a non-inferiority randomised controlled trial

To read more about “Idiopathic achalasia”

Gut . 2023 Aug;72(8):1442-1450

Multiple myeloma : Eligibility criteria and Enrollment of a Diverse Racial and Ethnic population in Trials

To read more about “Multiple myeloma”

Blood . 2023 Jul 20;142(3):235-243

Multiple myeloma, Relapsed and Refractory : Mezigdomide plus Dexamethasone

To read more about “Multiple myeloma”

N Engl J Med . 2023 Sep 14;389(11):1009-1022

vEDS (Vascular Ehlers-Danlos syndrome) : Diagnosis and management, experience of the UK national diagnostic service, Sheffield

To read more about “Vascular Ehlers-Danlos syndrome”

Eur J Hum Genet . 2023 Jul;31(7):749-760

Disorder of urea cycle metabolism and ammonia detoxification : Citrulline

To read more about “Disorder of urea cycle metabolism and ammonia detoxification”

Orphanet J Rare Dis . 2023 Jul 21;18(1):207

Idiopathic aplastic anemia : A multicenter real-world retrospective study of cyclosporine plus eltrombopag treatment, with or without antithymocyte immunoglobulin

To read more about “Idiopathic aplastic anemia”

Eur J Haematol . 2023 Sep;111(3):407-413

Glial tumor : Dabrafenib plus Trametinib in Pediatric Glioma with BRAF V600 Mutations

To read more about “Glial tumor”

N Engl J Med . 2023 Sep 21;389(12):1108-1120

DL-BCL (Diffuse large B-cell lymphoma), relapsed/refractory : Efficacy and safety of PD-1 monoclonal antibody plus rituximab

To read more about “Diffuse large B-cell lymphoma”

Eur J Haematol . 2023 Sep;111(3):356-364

Two entities (Primary hemophagocytic lymphohistiocytosis & Macrophage activation syndrome) : Intravenous anakinra, a systematic review

To read more about “Primary hemophagocytic lymphohistiocytosis”
To read more about “Macrophage activation syndrome”

Eur J Haematol . 2023 Sep;111(3):458-476

Takayasu arteritis : Comparative Efficacy of Secukinumab Versus Tumor Necrosis Factor Inhibitors

To read more about “Takayasu arteritis”

Arthritis Rheumatol . 2023 Aug;75(8):1415-1423

49,XXXXY syndrome : Behavioral profile, and potential impact of testosterone replacement therapy

To read more about “49,XXXXY syndrome”

Genet Med . 2023 Jul;25(7):100847

B-CLL (B-cell chronic lymphocytic leukemia) : First-Line Venetoclax Combinations

To read more about “B-cell chronic lymphocytic leukemia”

N Engl J Med . 2023 May 11;388(19):1739-1754.

HCC (Hepatocellular carcinoma) : Preliminary evidence of safety and tolerability of atezolizumab plus bevacizumab in patients with HCC, and Child-Pugh A and B cirrhosis, a real-world study

To read more about “Hepatocellular carcinoma”

Hepatology . 2022 Oct;76(4):1000-1012

Med-DLBCL (Primary mediastinal large B-cell lymphoma), primary, relapsed or refractory : Pembrolizumab , a final analysis of KEYNOTE-170

To read more about “Primary mediastinal large B-cell lymphoma”

Blood . 2023 Jul 13;142(2):141-145

Achondroplasia : Route of delivery does not impact postnatal surgical morbidity in pregnancies affected by fetal achondroplasia

To read more about “Achondroplasia”

Genet Med . 2023 Jul;25(7):100845

Acute graft versus host disease : Ruxolitinib improves hematopoietic regeneration by restoring mesenchymal stromal cell function

To read more about “Acute graft versus host disease”

J Clin Invest . 2023 Aug 1;133(15):e16220

ATTRV122I amyloidosis : Tafamidis decreased cardiac amyloidosis deposition in patients with Ala97Ser hereditary transthyretin cardiomyopathy, a 12-month follow-up cohort study

To read more about “ATTRV122I amyloidosis”

Orphanet J Rare Dis . 2023 Sep 13;18(1):289

Therapeutic Approaches

ALS (Amyotrophic lateral sclerosis) : CDNF rescues motor neurons in models, by targeting endoplasmic reticulum stress

To read more about “Amyotrophic lateral sclerosis”

Brain . 2023 Sep 1;146(9):3783-3799

SLE (Systemic lupus erythematosus) : Povetacicept, an Enhanced Dual APRIL/BAFF Antagonist That Modulates B Lymphocytes and Pathogenic Autoantibodies for the Treatment of Lupus and Other B Cell–Related Autoimmune Diseases

To read more about “Systemic lupus erythematosus”

Arthritis Rheumatol . 2023 Jul;75(7):1187-1202

Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease

To read more about “Fabry disease”

GPA (Granulomatosis with polyangiitis) : A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

To read more about “Granulomatosis with polyangiitis”

FD (Fabry disease) : GLA -modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from affected individuals

To read more about “Fabry disease”

Biomarkers

A Composite Serum Biomarker Index for the Diagnosis of Systemic Sclerosis–Associated Interstitial Lung Disease: A Multicenter, Observational Cohort Study

To read more about “Systemic sclerosis”

Arthritis Rheumatol . 2023 Aug;75(8):1424-1433

Diagnostic Approaches

CNO/CRMO (Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis) : Diagnostic and therapeutic practices within adult

To read more about “Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis”

Orphanet J Rare Dis . 2023 Jul 21;18(1):206

Dup(22)(q11) & 22q11DS : Preliminary study of noninvasive prenatal screening, using multiplex dPCR assay

To read more about “22q11.2 duplication syndrome”
To read more about “22q11.2 deletion syndrome”

Orphanet J Rare Dis . 2023 Sep 8;18(1):278

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

Orphanet J Rare Dis . 2023 Jul 21;18(1):201

Neonatal screening

BCKDK deficiency (Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency) : a treatable neurodevelopmental disease amenable to newborn screening

To read more about “Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency”

Brain . 2023 Jul 3;146(7):3003-3013

Patient Management and Therapy

Klippel-Trénaunay syndrome : Pathophysiology, evaluation, and management of gastrointestinal involvement

To read more about “Klippel-Trénaunay syndrome”

Orphanet J Rare Dis . 2023 Sep 12;18(1):288

SLE (Systemic lupus erythematosus) : Approach to vaccination in patients on biological treatment

To read more about “Systemic lupus erythematosus”

Ann Rheum Dis . 2023 Sep;82(9):1123-1129

Anaesthesia Critical Care & Pain Medicine Planning anesthesia of a child with a rare disease : useful tools

Anaesth Crit Care Pain Med . 2023 Jul 28;42(6):101284

PKU (Phenylketonuria) : Phenylalanine hydroxylase deficiency treatment and management, a systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)

To read more about “Phenylketonuria”

Genet Med . 2023 Sep;25(9):100358

EDS III (Hypermobile Ehlers-Danlos syndrome) : Perioperative opioid-minimization approach as a useful protocol in the management of patients EDS III, with craniocervical instability and severe chronic pain who are to undergo occipito-cervical fixation

To read more about “Hypermobile Ehlers-Danlos syndrome”

Orphanet J Rare Dis . 2023 Jul 25;18(1):214

Recommendations

FD (Fabry disease) : Management of pain in the UK clinical setting, consensus findings from an expert Delphi panel

To read more about “Fabry disease”

Orphanet J Rare Dis . 2023 Jul 21;18(1):203

HCC (Hepatocellular carcinoma) : Clinical Practice Guidelines, a Systematic Review

To read more about “Hepatocellular carcinoma”

J Gastrointest Cancer . 2023 Jul 22

Achondroplasia : European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

To read more about “Achondroplasia”

Orphanet J Rare Dis . 2023 Jul 27;18(1):219

Epidemiology

China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases

To read more about “Rare inborn errors of metabolism”

Orphanet J Rare Dis . 2023 Aug 3;18(1):228

Prevalence of propionic acidemia in China

To read more about “Propionic acidemia”

Orphanet J Rare Dis . 2023 Sep 9;18(1):281

Quality of Life

CEA (esophageal atresia) : The association of feeding difficulties and generic health-related quality of life among children

To read more about “Esophageal atresia”

Orphanet J Rare Dis . 2023 Aug 9;18(1):237

BBS (Bardet-Biedl syndrome) : Caregiver burden, findings from the CARE-BBS study

To read more about “Bardet-Biedl syndrome”

Summary of the edition of 29 September 2023

Editorial
Political news
Scientific news
And also...