Abdollah Sadeghi‐Nejad

Tufts University

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Boris Senior

Tufts Medical Center

Joseph I. Wolfsdorf

Harvard University

Anna Binkiewicz

Wroclaw University of Economics and Business

B. Senior

Tufts University

Hillel I. Hochman

Stanford University

Lawrence S. Milner

Colorado Kidney Care

Liliane Loridan

Hospital de Cruces

Luciani R. Carvalho

Universidade de São Paulo

Sally A. Camper

University of Michigan–Ann Arbor

Berenice B. Mendonça

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Cooperative Institutions

Tufts University

Tufts Medical Center

Harvard University

Tufts Children's Hospital

Boston University

Medical Center Hospital

Universidade de São Paulo

Massachusetts General Hospital

Boston Children's Hospital

University of Michigan–Ann Arbor

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Studies in Type I glycogenosis of the liver

The Journal of Pediatrics (1974)

Abdollah Sadeghi‐Nejad Esther Presente Anna Binkiewicz Boris Senior

10.1016/s0022-3476(74)80284-2

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Citations (41)

STUDIES ON THE PARADOXICAL EFFECT OF ETHANOL ON LACTATE IN TYPE I GLYCOGENOSIS

Pediatric Research (1974)

Abdollah Sadeghi‐Nejad Hillel I. Hochman Anna Binkiewicz B. Senior

Glycogenolysis

10.1203/00006450-197404000-00588

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Citations (1)

The incidence of late endocrine dysfunction following irradiation for childhood medulloblastoma

International Journal of Radiation Oncology*Biology*Physics (1986)

Olubunmi K. Abayomi Abdollah Sadeghi‐Nejad

10.1016/0360-3016(86)90390-1

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Citations (13)

Central Precocious Puberty as a Complication of Therapy with Adrenocorticotropin (ACTH) and an Aromatase Inhibitor for Refractory Nephrotic Syndrome

Case Reports in Pediatrics (2019)

Sungeeta Agrawal Robert Gensure Lawrence S. Milner Julie Nicoletta Abdollah Sadeghi‐Nejad

Glucocorticoids are typically prescribed for the treatment of idiopathic nephrotic syndrome of childhood. In selected patients with refractory focal segmental glomuerulosclerosis (FSGS), adrenocorticotropin (ACTH) can be used to induce remission and decrease the progression of the disease. We report a 6 8/12-year-old girl with recurrent proteinuria, resistant to standard immunotherapy. She underwent related renal transplant but again developed proteinuria and was started on ACTH. She subsequently developed peripheral precocious puberty (PPP), presumably from peripheral aromatization of adrenal androgens. She was started on an aromatase inhibitor, and her ACTH dose was slowly decreased. She then developed central precocious puberty (CPP). We hypothesize that treatment of her peripheral precocious puberty with an aromatase inhibitor may have triggered central precocious puberty.

Aromatase inhibitor

Refractory (planetary science)

Central precocious puberty

10.1155/2019/1624274

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Citations (2)

THE TREATMENT OF ULCERATIVE COLITIS IN CHILDREN WITH ALTERNATE-DAY CORTICOSTEROIDS

PEDIATRICS (1969)

Abdollah Sadeghi‐Nejad Boris Senior

Seven children, six with ulcerative colitis and one with granulomatous colitis, were treated with prednisone administered as a single dose on alternate days for periods of between 1 and 3½ years. All seven are attending school regularly and are growing and gaining at rates that approach normal. None show the features of Cushing's syndrome. Gastrointestinal symptoms have been slight, the bowel lesions have improved radiologically, and the findings on sigmoidoscopy and rectal biopsy have been equally satisfactory. A significant degree of therapeutic benefit has been achieved with little in the way of side effects, but one cannot yet predict whether the long-term risk of carcinoma has diminished.

Sigmoidoscopy

10.1542/peds.43.5.840

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Citations (36)

Gonadotropin-secreting pineal teratoma causing precocious puberty

Neurosurgery (1991)

Alan R. Cohen John Wilson Abdollah Sadeghi‐Nejad

A case of precocious puberty in a 7-year-old boy with a tumor of the pineal region is reported. Human chorionic gonadotropin levels were elevated in the serum and cerebrospinal fluid. Endocrinological evaluation of the hypothalamic-pituitary axis demonstrated a normal prepubertal response. The tumor was resected and proved to be an immature teratoma. Human chorionic gonadotropin levels were markedly elevated in the tumor cyst fluid. Sexual precocity regressed and human chorionic gonadotropin levels in the serum and cerebrospinal fluid fell to normal after surgery, suggesting that the precocious puberty was secondary to ectopic human chorionic gonadotropin production by the pineal teratoma.

Human chorionic gonadotropin

Gonadotropin

10.1097/00006123-199104000-00021

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Citations (23)

Effect of Recombinant Growth Hormone Treatment on Children With Crohnʼs Disease and Short Stature: A Pilot Study

Inflammatory Bowel Diseases (2005)

K Calenda I. L. Schornagel Abdollah Sadeghi‐Nejad Richard J. Grand

BackgroundGrowth failure frequently complicates Crohn's disease in childhood. Abnormalities in the growth hormone (GH)/insulin-like growth factor-1 axis may occur. The effects of administered GH on growth have not been studied previously in a randomized trial.

Growth hormone treatment

Idiopathic short stature

10.1097/01.mib.0000159321.58773.a6

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Citations (49)

Role of RET protein-tyrosine kinase inhibitors in the treatment RET-driven thyroid and lung cancers

Pharmacological Research (2017)

Robert Roskoski Abdollah Sadeghi‐Nejad

Vandetanib

Proto-Oncogene Proteins c-ret

Cabozantinib

Chromophobe cell

Medullary Thyroid Cancer

Alectinib

Axitinib

10.1016/j.phrs.2017.12.021

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Citations (95)

Hypoparathyroidism and Pregnancy Treatment With Calcitriol

JAMA (1980)

Abdollah Sadeghi‐Nejad

Calcitriol was used successfully to treat a patient with hypoparathyroidism during pregnancy. Increasing dosage of calcitriol were needed during the last trimester with a prompt decrease in the requirement after delivery. The dosage changes appear to mirror the pattern of endogenous synthesis of calcitriol in normal pregnant women.

Hypoparathyroidism

Dose

10.1001/jama.1980.03300290036018

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Citations (41)

HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

Clinical Endocrinology (2016)

Qing Fang Anna Benedetti Qianyi Ma Louise Gregory Jun Z. Li

Summary Introduction Mutations in the transcription factor HESX 1 can cause isolated growth hormone deficiency ( IGHD ) or combined pituitary hormone deficiency ( CPHD ) with or without septo‐optic dysplasia ( SOD ). So far there is no clear genotype–phenotype correlation. Patients and Results We report four different recessive loss‐of‐function mutations in three unrelated families with CPHD and no midline defects or SOD . A homozygous p.R160C mutation was found by Sanger sequencing in two siblings from a consanguineous family. These patients presented with ACTH , TSH and GH deficiencies, severe anterior pituitary hypoplasia ( APH ) or pituitary aplasia ( PA ) and normal posterior pituitary. The p.R160C mutation was previously reported in a case with SOD , CPHD and ectopic posterior pituitary ( EPP ). Using exome sequencing, a homozygous p.I26T mutation was found in a Brazilian patient born to consanguineous parents. This patient had evolving CPHD , normal ACTH , APH and normal posterior pituitary ( NPP ). A previously reported patient homozygous for p.I26T had evolving CPHD and EPP . Finally, we identified compound heterozygous mutations in HESX 1 , p.[R159W];[R160H], in a patient with PA and CPHD . We showed that both of these mutations abrogate the ability of HESX 1 to repress PROP 1‐mediated transcriptional activation. A patient homozygous for p.R160H was previously reported in a patient with CPHD , EPP , APH . Conclusion These three examples demonstrate that HESX 1 mutations cause variable clinical features in patients, which suggests an influence of modifier genes or environmental factors on the phenotype.

IGHD

Sanger sequencing

Compound heterozygosity

10.1111/cen.13067

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Citations (27)