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Michał Bielak

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Papers by Michał Bielak

Research paper thumbnail of Congenital Hyperinsulinaemic Hypoglycaemia—A Review and Case Presentation

Journal of Clinical Medicine, Oct 12, 2022

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Research paper thumbnail of Is gene therapy in spinal muscular atrophy safe? A casereport of thrombotic microangiopathy following onasemnogene abeparvovec

Journal of Pre-Clinical and Clinical Research

Spinal muscular atrophy is a neuromuscular disorder caused by a mutation in the survival of SMN1 ... more Spinal muscular atrophy is a neuromuscular disorder caused by a mutation in the survival of SMN1 gene. Diagnosis of the disease is based mainly on the presence of hypotonia and symmetrical [1]. A five-month-old male with SMA type 1 was admitted to the Children's Neurology Clinic for gene therapy with onasemnogene abeparvovec. He was diagnosed with spinal muscular atrophy in newborn screening.Neurological examination of the patient revealed abolition of deep tendon reflexes. Administration of the medication proceeded without complications. Two weeks after gene therapy, abnormal test results were observed. The patient experienced several adverse effects of the therapy, which indicated thrombotic microangiopathy (TMA). Gene therapy with onasemnogene abeparvovec provides many hopes for patients with SMA. On the other hand, its safety remains uncertain and patients require comprehensive long-term monitoring for possible side-effects.

Research paper thumbnail of Management and Treatment Outcomes of High-Risk Corneal Transplantations

Journal of Clinical Medicine

Corneal transplantation is the most effective treatment for corneal blindness. Standard planned k... more Corneal transplantation is the most effective treatment for corneal blindness. Standard planned keratoplasties have a high success rate. Conditions such as active inflammation at the time of surgery, the presence of ocular surface disease, previous graft disease, or neovascularization make them more susceptible to rejection. These are so-called high-risk corneal transplantations. In our study, we selected 52 patients with a higher risk of graft rejection. A total of 78 procedures were performed. The main indications for the first keratoplasty were infections (59.6%) and traumas (21.2%). Visual acuity (VA) significantly improved from 2.05 logMAR on the day of keratoplasty to 1.66 logMAR in the latest examination (p = 0.003). An analysis of the graft survival showed a 1-year survival of 54% and a 5-year survival of 19.8% of grafts. The mean observation time without complications after the first, second, and third surgery was 23, 13, and 14 months, respectively. The best results were n...

Research paper thumbnail of An enigmatic case of central nervous system infection and superior sagittal sinus thrombosis in an adolescent with COVID-19

Journal of Pre-Clinical and Clinical Research

COVID-19 neurological manifestations vary from mild symptoms, such as fatigue, to severe complica... more COVID-19 neurological manifestations vary from mild symptoms, such as fatigue, to severe complications. This article presents a case of a 15-year-old male with multiple brain abscesses, meningitis, massive sinusitis and saggital sinus thrombosis. SARS-CoV-2 IgM and IgG antibodies were increased, while blood and CSF cultures, anti-HSV antibodies and IGRA were negative. The patient responded well to the initial treatment with broad-spectrum antibiotics, glucocorticoids and intravenous immunoglobulins. After two weeks, his clinical state sudd0enly collapsed, with the progression of purulent lesions in the MRI. Urgent craniotomy was performed. A follow-up MRI confirmed regression of the purulent lesions. Negative blood and CSF cultures, as well as insufficiency of the broad-spectrum antibiotic therapy, suggested an atypical or opportunistic CNS infection, characteristic of immunocompromised patients. This strengthens the hypothesis that SARS-CoV-2 infection may lead to decreased immunocompetence.

Research paper thumbnail of Congenital Hyperinsulinaemic Hypoglycaemia—A Review and Case Presentation

Journal of Clinical Medicine, Oct 12, 2022

This article is an open access article distributed under the terms and conditions of the Creative... more This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY

Research paper thumbnail of Is gene therapy in spinal muscular atrophy safe? A casereport of thrombotic microangiopathy following onasemnogene abeparvovec

Journal of Pre-Clinical and Clinical Research

Spinal muscular atrophy is a neuromuscular disorder caused by a mutation in the survival of SMN1 ... more Spinal muscular atrophy is a neuromuscular disorder caused by a mutation in the survival of SMN1 gene. Diagnosis of the disease is based mainly on the presence of hypotonia and symmetrical [1]. A five-month-old male with SMA type 1 was admitted to the Children's Neurology Clinic for gene therapy with onasemnogene abeparvovec. He was diagnosed with spinal muscular atrophy in newborn screening.Neurological examination of the patient revealed abolition of deep tendon reflexes. Administration of the medication proceeded without complications. Two weeks after gene therapy, abnormal test results were observed. The patient experienced several adverse effects of the therapy, which indicated thrombotic microangiopathy (TMA). Gene therapy with onasemnogene abeparvovec provides many hopes for patients with SMA. On the other hand, its safety remains uncertain and patients require comprehensive long-term monitoring for possible side-effects.

Research paper thumbnail of Management and Treatment Outcomes of High-Risk Corneal Transplantations

Journal of Clinical Medicine

Corneal transplantation is the most effective treatment for corneal blindness. Standard planned k... more Corneal transplantation is the most effective treatment for corneal blindness. Standard planned keratoplasties have a high success rate. Conditions such as active inflammation at the time of surgery, the presence of ocular surface disease, previous graft disease, or neovascularization make them more susceptible to rejection. These are so-called high-risk corneal transplantations. In our study, we selected 52 patients with a higher risk of graft rejection. A total of 78 procedures were performed. The main indications for the first keratoplasty were infections (59.6%) and traumas (21.2%). Visual acuity (VA) significantly improved from 2.05 logMAR on the day of keratoplasty to 1.66 logMAR in the latest examination (p = 0.003). An analysis of the graft survival showed a 1-year survival of 54% and a 5-year survival of 19.8% of grafts. The mean observation time without complications after the first, second, and third surgery was 23, 13, and 14 months, respectively. The best results were n...

Research paper thumbnail of An enigmatic case of central nervous system infection and superior sagittal sinus thrombosis in an adolescent with COVID-19

Journal of Pre-Clinical and Clinical Research

COVID-19 neurological manifestations vary from mild symptoms, such as fatigue, to severe complica... more COVID-19 neurological manifestations vary from mild symptoms, such as fatigue, to severe complications. This article presents a case of a 15-year-old male with multiple brain abscesses, meningitis, massive sinusitis and saggital sinus thrombosis. SARS-CoV-2 IgM and IgG antibodies were increased, while blood and CSF cultures, anti-HSV antibodies and IGRA were negative. The patient responded well to the initial treatment with broad-spectrum antibiotics, glucocorticoids and intravenous immunoglobulins. After two weeks, his clinical state sudd0enly collapsed, with the progression of purulent lesions in the MRI. Urgent craniotomy was performed. A follow-up MRI confirmed regression of the purulent lesions. Negative blood and CSF cultures, as well as insufficiency of the broad-spectrum antibiotic therapy, suggested an atypical or opportunistic CNS infection, characteristic of immunocompromised patients. This strengthens the hypothesis that SARS-CoV-2 infection may lead to decreased immunocompetence.

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