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  1. Article: Improving the Knowledge of X-linked Hypophosphatemia among Clinicians in the Arabian Gulf and African Countries

    Mughal, M. Zulf

    Journal of Diabetes and Endocrine Practice

    2022  Volume 05, Issue 02, Page(s) 50–51

    Language English
    Publishing date 2022-04-01
    Publisher Thieme Medical and Scientific Publishers Pvt. Ltd.
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 2772-7653
    ISSN (online) 2772-7653
    DOI 10.1055/s-0042-1757704
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  2. Article: Burosumab treatment in a child with cutaneous skeletal hypophosphatemia syndrome: A case report.

    Khadora, Manal / Mughal, M Zulf

    Bone reports

    2021  Volume 15, Page(s) 101138

    Abstract: Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare disorder caused by somatic mosaicism for the gain of ... ...

    Abstract Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a rare disorder caused by somatic mosaicism for the gain of function
    Language English
    Publishing date 2021-10-01
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2821774-3
    ISSN 2352-1872
    ISSN 2352-1872
    DOI 10.1016/j.bonr.2021.101138
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The diagnostic odyssey in children and adolescents with X-linked hypophosphataemia: population-based, case-control study.

    Boardman-Pretty, Freya / Clift, Ashley Kieran / Mahon, Hadley / Sawoky, Nadine / Mughal, M Zulf

    The Journal of clinical endocrinology and metabolism

    2024  

    Abstract: Context: X-linked hypophosphataemia (XLH) is a rare genetic disorder causing renal phosphate wasting, which predicates musculoskeletal manifestations such as rickets. Diagnosis is often delayed.: Objective: To explore the recording of clinical ... ...

    Abstract Context: X-linked hypophosphataemia (XLH) is a rare genetic disorder causing renal phosphate wasting, which predicates musculoskeletal manifestations such as rickets. Diagnosis is often delayed.
    Objective: To explore the recording of clinical features, and the diagnostic odyssey of children and adolescents with XLH in primary care electronic healthcare records (EHR) in the United Kingdom.
    Methods: Using the Optimum Patient Care Research Database, individuals aged 20 years or younger after 1st Jan 2000 at date of recorded XLH diagnosis were identified using SNOMED/Read codes, and age-matched to 100 controls. Recording of XLH-related clinical features was summarised, then compared between cases and controls using Chi-squared or Fisher's exact tests.
    Results: 261 XLH cases were identified; 99 met inclusion criteria. Of these, 84/99 had at least 1 XLH-related clinical feature recorded in their primary care EHR. Clinical codes for rickets, genu varum and low phosphate were recorded prior to XLH diagnosis in under 20% of cases (median of 1, 1, and 3 years prior, respectively). Rickets, genu varum, low phosphate, nephrocalcinosis and growth delay were significantly more likely to be recorded in cases.
    Conclusion: This characterisation of the EHR phenotypes of children and adolescents with XLH may inform future case-finding approaches to expedite diagnosis in primary care.
    Language English
    Publishing date 2024-02-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgae069
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  4. Article ; Online: Vertebral, pelvic, and hip fracture risk in adults with severe atopic dermatitis.

    Arkwright, Peter D / Mughal, M Zulf

    The Journal of allergy and clinical immunology

    2019  Volume 145, Issue 2, Page(s) 487–488

    MeSH term(s) Cohort Studies ; Dermatitis, Atopic ; Hip Fractures ; Humans
    Language English
    Publishing date 2019-11-06
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2019.10.029
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  5. Article ; Online: Fractures in children with cerebral palsy.

    Mughal, M Zulf

    Current osteoporosis reports

    2014  Volume 12, Issue 3, Page(s) 313–318

    Abstract: Children with moderate to severe cerebral palsy are at increased risk of sustaining fracture following minimal trauma. Such fractures predominantly occur in lower limb bones and are associated with low bone mineral density. Risk factors for fracture in ... ...

    Abstract Children with moderate to severe cerebral palsy are at increased risk of sustaining fracture following minimal trauma. Such fractures predominantly occur in lower limb bones and are associated with low bone mineral density. Risk factors for fracture in this group include nonambulatory status, anticonvulsant use, presence of a joint contractures, immobilization after surgery, and poor nutrition. Aims of this review are to describe the prevalence and pathogenesis of fractures in nonambulant children with cerebral palsy. Interventions and treatments that improve low bone mineral density and which may help to reduce the fracture risk in this population are also discussed.
    MeSH term(s) Bone Density ; Bone Density Conservation Agents/therapeutic use ; Cerebral Palsy/complications ; Cerebral Palsy/therapy ; Child ; Diphosphonates/therapeutic use ; Fractures, Bone/complications ; Fractures, Bone/prevention & control ; Humans ; Mobility Limitation ; Physical Therapy Modalities
    Chemical Substances Bone Density Conservation Agents ; Diphosphonates
    Language English
    Publishing date 2014-06-26
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2186581-4
    ISSN 1544-2241 ; 1544-1873
    ISSN (online) 1544-2241
    ISSN 1544-1873
    DOI 10.1007/s11914-014-0224-1
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  6. Article ; Online: Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.

    Chinoy, Amish / Nicholson, Jacqueline / Skae, Mars / Hannan, Fadil M / Thakker, Rajesh V / Mughal, M Zulf / Padidela, Raja

    The Journal of pediatrics

    2023  Volume 257, Page(s) 113367

    Abstract: Objectives: To evaluate the prevalence and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hypercalcemia type 3 (FHH3).: Study design: A formal neurodevelopmental assessment was performed in children diagnosed ... ...

    Abstract Objectives: To evaluate the prevalence and degree of any neurodevelopmental abnormalities in children with familial hypocalciuric hypercalcemia type 3 (FHH3).
    Study design: A formal neurodevelopmental assessment was performed in children diagnosed with FHH3. The Vineland Adaptive Behavior Scales, which is a standardized parent report assessment tool for adaptive behavior, was used to assess communication, social skills, and motor function and to generate a composite score.
    Results: Six patients were diagnosed with hypercalcemia between 0.1 and 8 years of age. All had neurodevelopmental abnormalities in childhood consisting of either global developmental delay, motor delay, expressive speech disturbances, learning difficulties, hyperactivity, or autism spectrum disorder. Four out of the 6 probands had a composite Vineland Adaptive Behavior Scales SDS of < -2.0, indicating adaptive malfunctioning. Significant deficits were observed in the domains of communication (mean SDS: -2.0, P < .01), social skills (mean SDS: -1.3, P < .05), and motor skills (mean SDS: 2.6, P < .05). Individuals were equally affected across domains, with no clear genotype-phenotype correlation. All family members affected with FHH3 also described evidence of neurodevelopmental dysfunction, including mild-to-moderate learning difficulties, dyslexia, and hyperactivity.
    Conclusion: Neurodevelopmental abnormalities appear to be a highly penetrant and common feature of FHH3, and early detection is warranted to provide appropriate educational support. This case series also supports consideration of serum calcium measurement as part of the diagnostic work-up in any child presenting with unexplained neurodevelopmental abnormalities.
    MeSH term(s) Humans ; Hypercalcemia/diagnosis ; Hypercalcemia/genetics ; Autism Spectrum Disorder/complications ; Autism Spectrum Disorder/diagnosis ; Communication ; Genetic Association Studies ; Kidney Diseases
    Language English
    Publishing date 2023-03-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3102-1
    ISSN 1097-6833 ; 0022-3476
    ISSN (online) 1097-6833
    ISSN 0022-3476
    DOI 10.1016/j.jpeds.2023.02.013
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  7. Article ; Online: Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation.

    Wade, Laura / Aindow, Anita / Isherwood, Lorraine / Mughal, M Zulf / Ramakrishnan, Renuka

    Journal of pediatric endocrinology & metabolism : JPEM

    2022  Volume 35, Issue 4, Page(s) 549–556

    Abstract: Objectives: Neonatal severe hyperparathyroidism (NSHPT) due to pathogenic mutations in the calcium-sensing receptor (CASR) is a serious medical condition that can lead to symptomatic hypercalcaemia and has detrimental effects on a child's growth and ... ...

    Abstract Objectives: Neonatal severe hyperparathyroidism (NSHPT) due to pathogenic mutations in the calcium-sensing receptor (CASR) is a serious medical condition that can lead to symptomatic hypercalcaemia and has detrimental effects on a child's growth and development. What is new: This report adds to evidence that homozygous CASR mutations can be managed with cinacalcet monotherapy as an alternative to parathyroidectomy. And, early use of cinacalcet in NSHPT can result in improvements in symptoms, growth and developmental milestones.
    Case presentation: We present two siblings with NSHPT due to homozygous mutation in the CASR gene with moderate hypercalcaemia. Both were treated with cinacalcet monotherapy and showed significant improvement in growth parameters including head circumference, developmental milestones and hypercalcaemic symptoms, once their calcium and parathyroid hormone levels normalised.
    Conclusions: This report highlights the role of cinacalcet in managing elevated serum calcium levels in a select group of infants with NSHPT due to homozygous CASR mutations, resulting in improvement in hypercalcaemic symptoms, growth and neurodevelopmental outcomes.
    MeSH term(s) Calcium ; Child ; Cinacalcet/therapeutic use ; Homozygote ; Humans ; Hypercalcemia/drug therapy ; Hypercalcemia/genetics ; Infant ; Infant, Newborn ; Mutation ; Receptors, Calcium-Sensing/genetics ; Siblings
    Chemical Substances Receptors, Calcium-Sensing ; Calcium (SY7Q814VUP) ; Cinacalcet (UAZ6V7728S)
    Language English
    Publishing date 2022-01-19
    Publishing country Germany
    Document type Case Reports
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem-2021-0632
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    Zs.A 2258: Show issues Location:
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  8. Article ; Online: Current status in therapeutic interventions of neonatal bone mineral metabolic disorders.

    Chinoy, Amish / Mughal, M Zulf / Padidela, Raja

    Seminars in fetal & neonatal medicine

    2019  Volume 25, Issue 1, Page(s) 101075

    Abstract: Neonatal care has significantly improved in the past decade with improved survival of preterm and sick neonates. Similarly, the field of bone and mineral disorders is continuing to accelerate with better understanding of pathophysiology and genetic basis ...

    Abstract Neonatal care has significantly improved in the past decade with improved survival of preterm and sick neonates. Similarly, the field of bone and mineral disorders is continuing to accelerate with better understanding of pathophysiology and genetic basis of diseases, as well as availability of newer diagnostic and therapeutic modalities. In this extensive and rapidly expanding field, metabolic bone disease specialists are frequently called upon to translate progress into better care for neonates with bone and mineral disorders. Accordingly, this chapter provides a review of clinical manifestations and evidence-based investigation and management (where available) of common, rare and ultra-rare disorders of bone and mineral metabolism manifesting in the neonatal period. Besides medical treatment we emphasise the crucial role of the multidisciplinary team, which include physical therapists, occupational therapists and dieticians, in the care of neonates with bone disorders such as osteogenesis imperfecta and achondroplasia.
    MeSH term(s) Bone Diseases, Metabolic/therapy ; Disease Management ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases/therapy
    Language English
    Publishing date 2019-12-14
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2174416-6
    ISSN 1878-0946 ; 1744-165X
    ISSN (online) 1878-0946
    ISSN 1744-165X
    DOI 10.1016/j.siny.2019.101075
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    Zs.A 4798: Show issues Location:
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  9. Article: Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries.

    Mughal, M Zulf / Baroncelli, Giampiero I / de Lucas-Collantes, Carmen / Linglart, Agnès / Magnolato, Andrea / Raimann, Adalbert / Santos, Fernando / Schnabel, Dirk / Shaw, Nick / Nilsson, Ola

    Frontiers in endocrinology

    2023  Volume 13, Page(s) 1034580

    Abstract: Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab treatment in ... ...

    Abstract Given the relatively recent introduction of burosumab in the management of X-linked hypophosphatemia (XLH), there is limited real-world data to guide its use in clinical practice. As a group of European physicians experienced with burosumab treatment in clinical practice, we convened with the objective of sharing these practice-based insights on the use of burosumab in children and adolescents with XLH. We attended two virtual meetings, then discussed key questions
    MeSH term(s) Humans ; Child ; Adolescent ; Familial Hypophosphatemic Rickets/drug therapy ; Antibodies, Monoclonal/therapeutic use ; Europe ; Phosphates
    Chemical Substances burosumab (G9WJT6RD29) ; Antibodies, Monoclonal ; Phosphates
    Language English
    Publishing date 2023-01-31
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2022.1034580
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: An Infant with Asymptomatic Vitamin D Intoxication: A Prolonged and Sustainable Recovery.

    Al Alwan, Ibrahim / Al Issa, Nouf / Al Anazi, Yousef / Al Noaim, Khalid / Mughal, M Zulf / Babiker, Amir

    Case reports in endocrinology

    2022  Volume 2022, Page(s) 7072815

    Abstract: Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as delayed teething, knock knees, or delayed walking. We present here an ... ...

    Abstract Vitamin D intoxication (VDI) usually develops due to inappropriate use of vitamin D in high doses by the families of infants with complaints suggestive of vitamin D deficiency such as delayed teething, knock knees, or delayed walking. We present here an experience of treating an infant with asymptomatic VDI that had a prolonged course of recovery and a sustainable level of vitamin D over a follow-up period of 2.5 years. In our patient, vitamin D started to drop steadily after a month of stopping vitamin D supplements but not to a normal level. It reached an acceptable level only after six months. This case emphasizes the importance of educating parents about the empirical use of vitamin D over the counter, assessing the baseline level of serum vitamin D level prior to initiation of treatment and highlights the value of verifying additional dietary sources of vitamin D or oral supplements in patient's history.
    Language English
    Publishing date 2022-02-27
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2627633-1
    ISSN 2090-651X ; 2090-6501
    ISSN (online) 2090-651X
    ISSN 2090-6501
    DOI 10.1155/2022/7072815
    Database MEDical Literature Analysis and Retrieval System OnLINE

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