Mohamad Maghnie
Biographic Data
| ID | 7611683 |
|---|---|
| NAME | Mohamad Maghnie |
| GIVEN NAMES | Mohamad |
| FAMILY NAME | Maghnie |
| SIGNATURE | MAGHNIE M |
| AFFILIATIONS | Istituto Giannina Gaslini |
| ORCID | 0000-0002-7183-5238 |
| VERIFIED | Yes |
| TOTAL WORKS | 5 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 5 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2026 |
| H-INDEX | 0 |
Management of Severe Congenital Protein C Deficiency with Continuous Subcutaneous Infusion via Insulin Pump
Severe congenital Protein C deficiency (SCPCD) is a rare autosomal recessive thrombophilia that typically presents in the neonatal period with early-onset life-threatening thrombotic complications. We report the case of a female infant who presented at birth with digital ischemic necrosis and laboratory evidence of consumptive coagulopathy consistent with neonatal purpura fulminans. Severe Protein C deficiency was confirmed by markedly reduced Pr…
Safety and Efficacy of Using Advanced Hybrid Closed Loop Off-Label in an Infant Diagnosed with Permanent Neonatal Diabetes Mellitus
The case report shows the safety and efficacy of insulin treatment with Advanced Hybrid Closed Loop (AHCL) system in a young patient affected by permanent neonatal diabetes mellitus (PNDM) due to chromosome 8 deletion syndrome involving the GATA4 gene. In the first days of life, he presented hyperglycaemia and started an intravenous insulin infusion therapy, replaced by a continuous subcutaneous insulin infusion (CSII) with Medtronic Minimed 780G…
Patient Satisfaction of Telemedicine in Pediatric and Young Adult Type 1 Diabetes Patients During Covid-19 Pandemic
The aim of this study was to evaluate the satisfaction of the use of telemedicine and telenursing in children and young adults with Type 1 Diabetes and their families followed in the Regional Pediatric Diabetes Center of Giannina Gaslini Institute (Liguria, Italy). An anonymous survey form was administered to 290 patients (138 filled out by caregivers and 152 by patients). The questionnaire consisted of two parts: the first one included a series …
An Atypical Case of Aphasia
We report the case of a 13-year-old patient, female, born in Northern Italy, who presented with an acute episode of aphasia, lasting about 15 min, accompanied by left arm dysesthesia. The state of consciousness remained preserved throughout the episode. After a first clinical evaluation at second-level hospital, the patient was sent to our institute for further investigations. Brain MRI performed at admission showed no noteworthy structural alter…
An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus
Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was a c.1620_1622delGTG (p.Trp540del)/…
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Patient Satisfaction of Telemedicine in Pediatric and Young Adult Type 1 Diabetes Patients During Covid-19 Pandemic
The aim of this study was to evaluate the satisfaction of the use of telemedicine and telenursing in children and young adults with Type 1 Diabetes and their families followed in the Regional Pediatric Diabetes Center of Giannina Gaslini Institute (Liguria, Italy). An anonymous survey form was administered to 290 patients (138 filled out by caregivers and 152 by patients). The questionnaire consisted of two parts: the first one included a series …
An Atypical Case of Aphasia
We report the case of a 13-year-old patient, female, born in Northern Italy, who presented with an acute episode of aphasia, lasting about 15 min, accompanied by left arm dysesthesia. The state of consciousness remained preserved throughout the episode. After a first clinical evaluation at second-level hospital, the patient was sent to our institute for further investigations. Brain MRI performed at admission showed no noteworthy structural alter…
An Atypical Case of Late-Onset Wolfram Syndrome 1 without Diabetes Insipidus
Wolfram syndrome 1, a rare autosomal recessive neurodegenerative disease, is caused by mutations in the WFS1 gene. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), and other clinical manifestations such as urological and neurological disorders. Here we described the case of a patient with an atypical late-onset Wolfram syndrome 1 without DI. Our WS1 patient was a c.1620_1622delGTG (p.Trp540del)/…
Safety and Efficacy of Using Advanced Hybrid Closed Loop Off-Label in an Infant Diagnosed with Permanent Neonatal Diabetes Mellitus
The case report shows the safety and efficacy of insulin treatment with Advanced Hybrid Closed Loop (AHCL) system in a young patient affected by permanent neonatal diabetes mellitus (PNDM) due to chromosome 8 deletion syndrome involving the GATA4 gene. In the first days of life, he presented hyperglycaemia and started an intravenous insulin infusion therapy, replaced by a continuous subcutaneous insulin infusion (CSII) with Medtronic Minimed 780G…
Management of Severe Congenital Protein C Deficiency with Continuous Subcutaneous Infusion via Insulin Pump
Severe congenital Protein C deficiency (SCPCD) is a rare autosomal recessive thrombophilia that typically presents in the neonatal period with early-onset life-threatening thrombotic complications. We report the case of a female infant who presented at birth with digital ischemic necrosis and laboratory evidence of consumptive coagulopathy consistent with neonatal purpura fulminans. Severe Protein C deficiency was confirmed by markedly reduced Pr…
Medicine (4 works) · Pediatrics (4 works) · Diabetes mellitus (3 works) · Internal Medicine (3 works) · Diabetes Management and Research (2 works) · Disease (2 works) · Endocrinology (2 works) · Adenosine and Purinergic Signaling (1 work) · Age of onset (1 work) · Aphasia (1 work)