[The use of a urethral catheter with an ultrasound-induced biopolymer drug coating for the prevention of recurrent bladder neck sclerosis in patients after endoscopic treatment of benign prostate hyperplasia].

Recurrent bladder neck sclerosis is one of the common complications of endoscopic treatment of benign prostate hyperplasia, which often leads to multiple re-operations, including complex open and laparoscopic reconstructive procedures. One of the most promising minimally invasive methods for preventing recurrence of bladder neck sclerosis is balloon dilatation under transrectal ultrasound guidance. To improve the results of using this technique, a urethral catheter with a biopolymer coating, capable of depositing a drug and eluting it under the influence of diagnostic ultrasound, was proposed.

Cannabidiol goes nuclear: The role of PPARγ.

BACKGROUND: Cannabidiol (CBD) is one of the main phytocannabinoids found in Cannabis sativa. In contrast to Δ9-tetrahydrocannabinol, it has a low affinity for cannabinoid receptors CB1 and CB2, thereby it does not induce significant psychoactive effects. However, CBD may interact with other receptors, including peroxisome proliferator-activated receptor gamma (PPARγ). CBD is a PPARγ agonist and changes its expression. There is considerable evidence that CBD's effects are mediated by its interaction with PPARγ. So, we reviewed studies related to the interaction of CBD and PPARγ. METHODS: In this comprehensive literature review, the term 'cannabidiol' was used in combination with the following keywords including 'PPARγ', 'Alzheimer's disease', 'Parkinson's disease', 'seizure', 'multiple sclerosis', 'immune system', 'cardiovascular system', 'cancer', and 'adipogenesis'. PubMed, Web of Science, and Google Scholar were searched until December 20, 2022. A total of 78 articles were used for the reviewing process. RESULTS: CBD, via activation of PPARγ, promotes significant pharmacological effects. The present review shows that the effects of CBD on Alzheimer's disease and memory, Parkinson's disease and movement disorders, multiple sclerosis, anxiety and depression, cardiovascular system, immune system, cancer, and adipogenesis are mediated, at least in part, via PPARγ. CONCLUSION: CBD not only activates PPARγ but also affects its expression in the body. It was suggested that the late effects of CBD are mediated via PPARγ activation. We suggested that CBD's chemical structure is a good backbone for developing new dual agonists. Combining it with other chemicals enhances their biological effectiveness while reducing their dosage. The present study indicated that PPARγ is a key target for CBD, and its activation by CBD should be considered in all future studies.

The Thalamic and Intracortical Inhibitory Function of Somatosensory System Is Unchanged in Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis.

PURPOSE: In mesial temporal lobe epilepsy with hippocampal sclerosis, there is parietal atrophy and cognitive involvement in related domains. In this context, we hypothesized that inhibitory input into somatosensory cortex and thalamus may be increased in these patients, which could improve after epilepsy surgery. Thus, we analyzed the inhibitory function of somatosensory system by studying surround inhibition (SI) and recovery function of somatosensory evoked potentials in patients with mesial temporal lobe epilepsy with hippocampal sclerosis. METHODS: Nine patients with unoperated mesial temporal lobe epilepsy with hippocampal sclerosis, 10 patients who underwent epilepsy surgery, and 12 healthy subjects were included. For SI of somatosensory evoked potentials, we recorded somatosensory evoked potentials after stimulating median or ulnar nerve at wrist separately and after median and ulnar nerves simultaneously and calculated SI% in all participants. For recovery function of somatosensory evoked potentials, paired stimulation of median nerve at 40- and 100-millisecond intervals was performed. We compared the findings among groups. As a secondary analysis, we determined the outliers in the patient group and analyzed the relation to the clinical findings. RESULTS: The mean SI% or recovery function was similar among three groups. However, there were five patients with SI loss on normal side in the patient group, which was related to the antiseizure drugs. CONCLUSIONS: In contrast to our hypothesis, both intracortical (SI) and thalamic/striatal (recovery function) inhibitory modulation of the somatosensory cortex was not altered in mesial temporal lobe epilepsy with hippocampal sclerosis and did not differ in surgical and nonsurgical groups.

[A Case Series of Elderly Patients with Aortic Stenosis (AS) Undergoing Conscious Glaucoma Surgery in Sub-Tenon's or Subconjunctival Anaesthesia]. / Eine Fallserie wacher Glaukomoperationen mittels Sub-Tenon- oder subkonjunktivaler Anästhesie bei älteren PatientInnen mit Aortenklappenstenose.

With the current demographic changes, an increasing number of patients scheduled for glaucoma surgery presents with aortic sclerosis (AS) as part of their list of systemic diseases. This presents a definite challenge for anaesthesiologists and eye surgeons alike. We illustrate 6 cases of patients with aortic sclerosis undergoing glaucoma surgery in subconjunctival local anaesthesia or sub-Tenon block (STB). In one patient, due to discomfort, local anaesthesia had to be given repeatedly. Her blood pressure rose permanently to hypertensive values. During surgery, localised, temporal choroidal bleeding was noticed. The follow-up was complicated by exorbitant intraocular pressure swings and secondary localised choroidal bleeding. Anaesthesiologist and ophthalmic surgeon must harmonise their strategy to provide optimal transmural pressure across choroidal vessels and stenotic aortic valve outlet. Clinicians are often not aware of the core principals of each other's speciality. Our discussion considers different approaches for both disciplines to safely reduce the risk of suprachoroidal bleeding for this high-risk patient population with aortic stenosis.

A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability.

BACKGROUND: The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. METHODS: Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. RESULTS: Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype-phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. CONCLUSION: PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. "A higher resolution version of the Graphical abstract is available as Supplementary information".

Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice.

BACKGROUND: Mesenchymal stromal cells (MSCs) function as supportive cells on skeletal muscle homeostasis through several secretory factors including type 6 collagen (COL6). Several mutations of COL6A1, 2, and 3 genes cause Ullrich congenital muscular dystrophy (UCMD). Skeletal muscle regeneration deficiency has been reported as a characteristic phenotype in muscle biopsy samples of human UCMD patients and UCMD model mice. However, little is known about the COL6-dependent mechanism for the occurrence and progression of the deficiency. The purpose of this study was to clarify the pathological mechanism of UCMD by supplementing COL6 through cell transplantation. METHODS: To test whether COL6 supplementation has a therapeutic effect for UCMD, in vivo and in vitro experiments were conducted using four types of MSCs: (1) healthy donors derived-primary MSCs (pMSCs), (2) MSCs derived from healthy donor induced pluripotent stem cell (iMSCs), (3) COL6-knockout iMSCs (COL6KO-iMSCs), and (4) UCMD patient-derived iMSCs (UCMD-iMSCs). RESULTS: All four MSC types could engraft for at least 12 weeks when transplanted into the tibialis anterior muscles of immunodeficient UCMD model (Col6a1KO) mice. COL6 protein was restored by the MSC transplantation if the MSCs were not COL6-deficient (types 1 and 2). Moreover, muscle regeneration and maturation in Col6a1KO mice were promoted with the transplantation of the COL6-producing MSCs only in the region supplemented with COL6. Skeletal muscle satellite cells derived from UCMD model mice (Col6a1KO-MuSCs) co-cultured with type 1 or 2 MSCs showed improved proliferation, differentiation, and maturation, whereas those co-cultured with type 3 or 4 MSCs did not. CONCLUSIONS: These findings indicate that COL6 supplementation improves muscle regeneration and maturation in UCMD model mice.

Stereotactic EEG-guided radiofrequency thermocoagulation versus anterior temporal lobectomy for mesial temporal lobe epilepsy with hippocampal sclerosis: study protocol for a randomised controlled trial.

INTRODUCTION: In this report, we aim to describe the design for the randomised controlled trial of Stereotactic electroencephalogram (EEG)-guided Radiofrequency Thermocoagulation versus Anterior Temporal Lobectomy for Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (STARTS). Mesial temporal lobe epilepsy (mTLE) is a classical subtype of temporal lobe epilepsy that often requires surgical intervention. Although anterior temporal lobectomy (ATL) remains the most popular treatment for mTLE, accumulating evidence has indicated that ATL can cause tetartanopia and memory impairments. Stereotactic EEG (SEEG)-guided radiofrequency thermocoagulation (RF-TC) is a non-invasive alternative associated with lower seizure freedom but greater preservation of neurological function. In the present study, we aim to compare the safety and efficacy of SEEG-guided RF-TC and classical ATL in the treatment of mTLE. METHODS AND ANALYSIS: STARTS is a single-centre, two-arm, randomised controlled, parallel-group clinical trial. The study includes patients with typical mTLE over the age of 14 who have drug-resistant seizures for at least 2 years and have been determined via detailed evaluation to be surgical candidates prior to randomisation. The primary outcome measure is the cognitive function at the 1-year follow-up after treatment. Seizure outcomes, visual field abnormalities after surgery, quality of life, ancillary outcomes, and adverse events will also be evaluated at 1-year follow-up as secondary outcomes. DISCUSSION: SEEG-guided RF-TC for mTLE remains a controversial seizure outcome but has the advantage for cognitive and visual field protection. This is the first RCT studying cognitive outcomes and treatment results between SEEG-guided RF-TC and standard ATL for mTLE with hippocampal sclerosis. This study may provide higher levels of clinical evidence for the treatment of mTLE. TRIAL REGISTRATION: ClinicalTrials.gov NCT03941613 . Registered on May 8, 2019. The STARTS protocol has been registered on the US National Institutes of Health. The status of the STARTS was recruiting and the estimated study completion date was December 31, 2021.

Trace elements in patients with aortic valve sclerosis.

BACKGROUND: Aortic valve sclerosis (AVSc) is defined as the thickening and calcification of aortic valve cusps, in the absence of obstruction of ventricular outflow. AVSc is linked with a clear imbalance in some trace elements. AIMS: The objective of this study was to investigate the relationship between AVSc and serum levels of iron (Fe), zinc (Zn), selenium (Se), and copper (Cu). Additionally, this research aimed to explore the clinical significance of human serum zinc, selenium, copper, and iron concentrations as a potential new biomarker for AVSc patients and to clarify the pathophysiological role in individuals at risk of developing AVSc. PATIENTS AND METHODS: The study included 40 subjects with AVSc (25% male and 75% female) who were compared with a healthy control group with the same gender ratio. AVSc was based on comprehensive echocardiographic assessments. Blood samples were taken and Zn and Cu concentrations were determined through the use of atomic absorption spectroscopy. Se was measured using an inductively coupled plasma mass spectrometry device and Fe was measured using a Beckman Coulter instrument. RESULTS: There was a significant difference in the prevalence of diabetes, blood pressure levels, and body mass index between the patients and the healthy subjects (p < 0.05). The differences between the serum Fe, Se, and Cu levels of the AVSc patients and the healthy subjects (p > 0.05) were recorded. The serum Zn of AVSc patients when compared was significantly lower compared with that of the control group (p < 0.01). CONCLUSION: Patients with AVSc had an imbalance in some of the trace elements in their blood. The patient group's valves had higher serum Cu levels and lower serum Se, Zn, and Fe concentrations compared with the healthy group's valves. In the valve patients as compared, AVSc had a high prevalence of obesity, hypertension, and diabetes.

Gene expression analysis in epileptic hippocampi reveals a promoter haplotype conferring reduced aldehyde dehydrogenase 5a1 expression and responsiveness.

Increasing evidence indicates the pathogenetic relevance of regulatory genomic motifs for variability in the manifestation of brain disorders. In this context, cis-regulatory effects of single nucleotide polymorphisms (SNPs) on gene expression can contribute to changing transcript levels of excitability-relevant molecules and episodic seizure manifestation in epilepsy. Biopsy specimens of patients undergoing epilepsy surgery for seizure relief provide unique insights into the impact of promoter SNPs on corresponding mRNA expression. Here, we have scrutinized whether two linked regulatory SNPs (rs2744575; 4779C > G and rs4646830; 4854C > G) located in the aldehyde dehydrogenase 5a1 (succinic semialdehyde dehydrogenase; ALDH5A1) gene promoter are associated with expression of corresponding mRNAs in epileptic hippocampi (n = 43). The minor ALDH5A1-GG haplotype associates with significantly lower ALDH5A1 transcript abundance. Complementary in vitro analyses in neural cell cultures confirm this difference and further reveal a significantly constricted range for the minor ALDH5A1 haplotype of promoter activity regulation through the key epileptogenesis transcription factor Egr1 (early growth response 1). The present data suggest systematic analyses in human hippocampal tissue as a useful approach to unravel the impact of epilepsy candidate SNPs on associated gene expression. Aberrant ALDH5A1 promoter regulation in functional terms can contribute to impaired γ-aminobutyric acid homeostasis and thereby network excitability and seizure propensity.

Idiopathic mesenteric phlebosclerosis associated with use of Chinese herbal medicine: Two case reports.

RATIONALE: Idiopathic mesenteric phlebosclerosis (IMP) is a rare form of ischemic colitis. It is more common in the Asian population people with Asian ancestry. Disease pathogenesis and etiology are not fully elucidated but may be associated with the long-term intake of toxins and other substances, including Chinese herbs. The disease has typical radiological and endoscopic features. Radiologic examination combined with endoscopy can lead to a conclusive diagnosis. PATIENT CONCERNS: We present 2 cases of IMP: in male patients aged 66 and 79 years. The first patient presented with diarrhea and abdominal pain, and the second patient presented with numbness of limbs and abdominal discomfort. These patients had a history of long-term use of Chinese herbal medicine (CHM). DIAGNOSIS: Both patients were diagnosed with IMP by endoscopy and radiology, and the diagnosis confirmed by biopsy in the first patient. INTERVENTIONS: The first patient was advised to stop using CHM. Both patients were given conservative treatment and were followed up regularly. OUTCOMES: Symptoms improved after conservative treatment. The patients had no obvious discomfort during the follow-up period. CONCLUSION: We suspect that the disease is induced by the long-term use of CHM, and dosage and duration of use may determine disease severity.

The morphological characteristics of hippocampus and thalamus in mesial temporal lobe epilepsy.

BACKGROUND: Mesial temporal lobe epilepsy (MTLE) is the most common form of focal epilepsy, which is frequently characterized by hippocampal sclerosis (HS). Accumulating studies have suggested widespread cortico-cortical connections related to MTLE. The role of subcortical structures involved in general epilepsy has been extensively investigated, but it is still limited in MTLE. Our purpose was to determine the specific morphological correlation between sclerotic hippocampal and thalamic sub-regions, using quantitative analysis, in MTLE. METHODS: In this study, 23 MTLE patients with unilateral hippocampal sclerosis and 24 healthy controls were examined with three-dimensional T1 MRI. Volume quantitative analysis in the hippocampus and thalamus was conducted and group-related volumetric difference was assessed. Moreover, vertex analysis was further performed using automated software to delineate detailed morphological patterns of the hippocampus and thalamus. The correlation was used to examine whether there is a relationship between volume changes of two subcortical structures and clinical characteristics. RESULTS: The patients had a significant volume decrease in the sclerotic hippocampus (p < 0.001). Compared to controls, obvious atrophic patterns were observed in the bilateral hippocampus in MTLE (p < 0.05). Only small patches of shrinkage were noted in the bilateral thalamus (p < 0.05). Moreover, the volume change of the hippocampus had a significant positive correlation with that of the thalamus (P < 0.001). Intriguingly, volume changes of the hippocampus and thalamus were correlated with the duration of epilepsy (hippocampus: P = 0.024; thalamus: P = 0.022). However, only volume changes of thalamus possibly differentiated between two prognostic groups in patients (P = 0.026). CONCLUSIONS: We demonstrated the morphological characteristics of the hippocampus and thalamus in MTLE, providing new insights into the interrelated mechanisms between the hippocampus and thalamus, which have potential clinical significance for refining neuromodulated targets.

Reliability of Human Lumbar Facet Joint Degeneration Severity Assessed by Magnetic Resonance Imaging.

OBJECTIVE: The purpose of this study was to determine the reliability of the assessment of lumbar facet joint degeneration severity by analyzing degeneration subscales using magnetic resonance imaging (MRI) in human participants. METHODS: The reliability of articular cartilage degeneration, subchondral bone sclerosis, and osteophyte formation subscales of lumbar facet joint degeneration severity was assessed in MRI images from n = 10 human participants. Each scale was applied to n = 20 lumbar facet joints (L4/5 level). Three examiners were trained. A first assessment of MRI images was provided by the examiners followed by a second assessment 30 days later. Intraobserver and interobserver reliability were determined using percent agreement, the weighted kappa coefficient κw for paired comparisons, and the overall weighted kappa κo. The minimum threshold for reliability was set at moderate levels of agreement, κw > 0.40, based upon previous recommendations. RESULTS: The articular cartilage subscale had acceptable intraobserver (κo = 0.51) and interobserver (κo = 0.41) reliability. Scales for subchondral bone sclerosis (intraobserver κo = 0.28; interobserver κo = 0.10) and osteophyte formation (intraobserver κo = 0.26; interobserver κo = 0.20) did not achieve acceptable reliability. CONCLUSION: Of the 3 subcategories of lumbar facet joint degeneration, only articular cartilage degeneration demonstrated acceptable reliability. Subscales of lumbar facet joint degeneration should be considered independently for reliability before combining subscales for a global degeneration score. Owing to the inherent difficulty of assessing lumbar facet joint degeneration, the use of multiple examiners independently assessing degeneration with reliable scales and then coming to a consensus score upon any disagreements is recommended for future clinical studies.

Interference of High Dose Biotin Supplementation with Thyroid Parameters in Immunoassays Utilizing the Interaction between Streptavidin and Biotin: a Case Report and Review of Current Literature.

BACKGROUND: Automated immunoassays utilizing the interaction between streptavidin and biotin are widely used. Nonetheless, biotin remains an often overlooked confounder. METHODS: We report the case of a 54-year-old female patient with progressive multiple sclerosis and Hashimoto's thyroiditis who presented herself for a follow-up. Measurements on Roche's cobas® 8000 modular analyzer series suggested severe hyperthyroidism. Initially, no relevant confounders could be identified. RESULTS: All requested thyroid parameters were measured with alternative methods, yielding plausible results. CONCLUSIONS: Biotin is a significant confounder in many immunoassays. Alternative measurement methods or methods of biotin neutralization need to be implemented for certain situations.

Reduction of ipsilateral thalamic volume in temporal lobe epilepsy with hippocampal sclerosis.

The thalamus plays an important role in the modulation of both focal and generalized seizures, but the mechanisms related to seizures may be different among epilepsy syndromes. The aim of this study is to investigate the thalamic atrophy in different epilepsy syndromes. We enrolled a total of 72 patients with epilepsy (22 patients with temporal lobe epilepsy with hippocampal sclerosis, 21 patients with extra-temporal lobe epilepsy, and 29 patients with juvenile myoclonic epilepsy). We analyzed structural volumes of the brain with FreeSurfer 5.1 software, and compared them among subgroups of epilepsy and normal control subjects. Moreover, we quantified correlations between the duration of epilepsy and the structural volumes with age and sex as covariates. The volumes of the ipsilateral hippocampus in temporal lobe epilepsy with hippocampal sclerosis were significantly smaller than those in extra-temporal lobe epilepsy and normal control subjects [analysis of variance (ANOVA), p < 0.001]. Although the volumes of the ipsilateral thalamus were not different from those of normal control subjects, the volumes of the ipsilateral thalamus were negatively correlated with duration of epilepsy in temporal lobe epilepsy with hippocampal sclerosis (r = -0.5, p = 0.02). However, the volumes of interest in extra-temporal lobe epilepsy and juvenile myoclonic epilepsy were not different from those in normal control subjects, and none of these structures were correlated with duration of epilepsy. These findings suggest that the role of the thalamus may be different in thalamo-limbic circuits among epilepsy syndromes.

Morphometric MRI features and surgical outcome in patients with epilepsy related to hippocampal sclerosis and low intellectual quotient.

OBJECTIVE: The objectives of this study were to verify in a series of patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) if those with low intellectual quotient (IQ) levels have more extended areas of atrophy compared with those with higher IQ levels and to analyze whether IQ could be a variable implicated on a surgical outcome. MATERIAL AND METHODS: Patients (n=106) with refractory MTLE-HS submitted to corticoamygdalohippocampectomy (CAH) (57 left mesial temporal lobe epilepsy (MTLE); 45 males) were enrolled. To determine if the IQ was a predictor of seizure outcome, totally seizure-free (SF) versus nonseizure-free (NSF) patients were evaluated. FreeSurfer was used for cortical thickness and volume estimation, comparing groups with lower (<80) and higher IQ (90-109) levels. RESULTS: In the whole series, 42.45% of patients were SF (Engel Class 1a; n=45), and 57.54% were NSF (n=61). Total cortical volume was significantly reduced in the group with lower IQ (p=0.01). Significant reductions in the left hemisphere included the following: rostral middle frontal (p=0.001), insula (p=0.002), superior temporal gyrus (p=0.003), thalamus (p=0.004), and precentral gyrus (p=0.02); and those in the right hemisphere included the following: rostral middle frontal (p=0.003), pars orbitalis (p=0.01), and insula (p=0.02). Cortical thickness analysis also showed reductions in the right superior parietal gyrus in patients with lower IQ. No significant relationship between IQ and seizure outcome was found. CONCLUSIONS: This is the first study of a series of patients with pure MTLE-HS, including those with low IQ and their morphometric magnetic resonance imaging (MRI) features using FreeSurfer. Although patients with lower intellectual scores presented more areas of brain atrophy, IQ was not a predictor of surgical outcome. Therefore, when evaluating seizure follow-up, low IQ in patients with MTLE-HS might not contraindicate resective surgery.

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.

BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. METHODS: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. RESULTS: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene. Both were located within the polyprenyl synthetase domain. Clinical exome sequencing revealed a heterozygous missense mutation in exon 3, and our in-house joint-analysis algorithm detected a heterozygous large 2923-bp deletion that affected the 5 prime end of exon 8. Other causative defects in the CoQ10 and infantile nephrosis-related genes examined were not found. A postmortem histological, immunohistochemical, and electron microscopic evaluation of the glomeruli revealed collapsing-sclerosing lesions consistent with diffuse mesangial sclerosis. The extrarenal alterations included hypertrophic cardiomyopathy and diffuse alveolar damage. A histological evaluation of the central nervous system and skeletal muscles did not demonstrate any obvious abnormality. CONCLUSIONS: Until now, the clinical features and the mutational status of 6 patients with a PDSS2 gene defect have been reported in the English literature. Here, we describe for the first time detailed kidney morphology features in a patient with nephrotic syndrome carrying mutations in the PDSS2 gene.