Deep Sulcus Research Articles

Chevron Bone and OS Penis in Dog: Structural and Functional Anatomy

The study was conducted to record the structural and functional anatomy of chevron bone and os penis in dogs. The chevron bone along with coccygeal vertebra and os penis were collected from four adult dogs by natural wet maceration technique. The chevron bone was alphabet capital “V” or “Y” shaped bone which consisted of three processes namely, two lateral process and one ventral process. The two lateral processes were articulated with the haemal process of coccygeal vertebrae to form haemal canal. The chevron bones functionally protect the middle coccygeal artery which has important clinical role in assessing the animal health. The os penis was a heterotrophic bone situated inside the penis. It was triangular in outline with a base, a body and an apex. The body consisted of three surfaces and three borders. The ventral surface was made up of deep urethral sulcus which accommodated and protected the urethra.

Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy

Objective: To summarize the genotype and clinical phenotype of children with WWOX gene related developmental and epileptic encephalopathy (DEE). Methods: Case series studies. The clinical data of 12 children with WWOX gene related DEE who were admitted to the Neurological Department of Children's Medical Center, Peking University First Hospital from June 2019 to December 2023 were analyzed. The children's characteristics of gene variation, clinical phenotype, auxiliary examination results, treatment and prognosis were analyzed. Results: Among 12 children with WWOX gene related DEE, there were 7 boys and 5 girls, the age of seizure onset ranged from 10 days to 6 months (median 1.8 months). Multiple seizure types were observed, including focal seizures in 10 cases, epileptic spasms in 9 cases, tonic seizures in 4 cases, myoclonic seizures in 1 case. Among 12 cases, 9 cases had multiple seizure types. All 12 cases showed microcephaly and global developmental delay. Video electroencephalography showed slowed background activity in 6 cases, hyperarrhythmia in 6 cases, multifocal discharges in 6 cases, and focal discharges in 1 case. Epileptic spasms were detected in 8 cases, tonic seizures in 4 cases and myoclonic seizures in 1 case. Brain magnetic resonance imaging showed bilateral frontotemporal subarachnoid space widening in 5 cases, deep sulci in 3 cases, bilateral ventricular enlargement in 2 cases, callosal hypoplasia in 5 cases, and delayed white matter myelination in 3 cases. The phenotypes of 12 cases were consistent with the diagnosis of DEE, and 8 of them were diagnosed with infantile epileptic spasm syndrome. All the WWOX gene variants in 12 cases were complex heterozygous variants, including 20 variants, 11 variants and 1 large intragenic WWOX gene deletion (p.Ala149Thr, p.Arg156Ser, p.R167Tfs*8, p.Leu186Val, c.605+5G>A, p.Trp218*, p.His263Arg, p.Leu275fs*19*1, p.N285Kfs*10, p.Ser304Tyr, p.Met326Arg, loss1 exon2-8) had not been reported previously. The age of last follow-up ranged from 11 months to 5 years and 3 months. During the follow-up, 1 case died at the age of 1 year and 10 months, 2 cases were seizure-free, and 9 cases still had seizures after multiple anti-seizure medications. Conclusions: The seizure onset age of children with WWOX gene related DEE is usually less than 6 months, and some of them in neonate. The common seizure types include focal seizures and epileptic spasms. Children usually have microcephaly and global developmental delay. WWOX gene related DEE usually has drug refractory epilepsy.

Depth versus surface: A critical review of subdural and depth electrodes in intracranial electroencephalographic studies.

Intracranial electroencephalographic (IEEG) recording, using subdural electrodes (SDEs) and stereoelectroencephalography (SEEG), plays a pivotal role in localizing the epileptogenic zone (EZ). SDEs, employed for superficial cortical seizure foci localization, provide information on two-dimensional seizure onset and propagation. In contrast, SEEG, with its three-dimensional sampling, allows exploration of deep brain structures, sulcal folds, and bihemispheric networks. SEEG offers the advantages of fewer complications, better tolerability, and coverage of sulci. Although both modalities allow electrical stimulation, SDE mapping can tessellate cortical gyri, providing the opportunity for a tailored resection. With SEEG, both superficial gyri and deep sulci can be stimulated, and there is a lower risk of afterdischarges and stimulation-induced seizures. Most systematic reviews and meta-analyses have addressed the comparative effectiveness of SDEs and SEEG in localizing the EZ and achieving seizure freedom, although discrepancies persist in the literature. The combination of SDEs and SEEG could potentially overcome the limitations inherent to each technique individually, better delineating seizure foci. This review describes the strengths and limitations of SDE and SEEG recordings, highlighting their unique indications in seizure localization, as evidenced by recent publications. Addressing controversies in the perceived usefulness of the two techniques offers insights that can aid in selecting the most suitable IEEG in clinical practice.

Correction of Skeletal Class II Malocclusion in a Growing Child Using Standard Twin Block: A Case Report

Mandibular defiiency in a Class II malocclusion is a frequently encountered condition that can be managed with myofunctional appliance in a growing child. An 11-year-old patient presented with a complaint of forwardly placed upper front teeth. The patient had a convex facial profie, acute naso-labial angle, deep mento-labial sulcus with lip trap. Clinically the patient showed positive VTO. The clinical fidings and cephalometric analysis indicated skeletal Class II jaw bases owing to prognathic maxilla and retrognathic mandible with Angle’s Class II division 1 malocclusion. CVMIshowed that the patient was in his growth phase. The treatment was done with a standard twin block appliance for 9 months followed by fied orthodontic treatment. The post functional phase showed correction of skeletal class II jaw base and marked improvement in the facial profie from convex to straight. It was later followed by fixed orthodontic treatment in the second phase upon completion of which bonded lingual retainer and wrap around retainers were given in the upper and lower arch. The total duration of the treatment was 23 months.

Surgical growth modulation for mandibular retrognathism: A case report

A case of 18-year-old female presented with retrognathic mandible having skeletal class II malocclusion, exhibiting convex profile, deep mentolabial sulcus, class II molar, and canine relation bilaterally with proclined maxillary incisors, increased overjet and 100% deep bite. The case had a severe ABO discrepancy index. The leveling and alignment of dental arches were achieved by sequential archwire placement using 0.022” MBT PEA. After leveling and alignment stage, the case was assessed for surgical growth modulation using intra-oral distractors. After necessary planning the case was operated for bilateral sagittal split osteotomy and placement of intra-oral distractors. A standardized protocol was followed for the activation of distractors. Two weeks post distraction the case was reassessed for skeletal changes achieved, followed by settling of occlusion and removal of intra-oral distractors. Skeletal class I bases with improvement in vertical proportions was observed on completion of treatment. This case report suggests that in a patient with mandibular retrognathism and nearly exhausted growth potential, orthodontic treatment in conjunction with meticulously planned and executed mandibular distraction osteogenesis may be effective in achieving aesthetic enhancement and improved stomatognathic function.

September 2023 Pulmonary Case of the Month: A Bone to Pick

No abstract available. Article truncated after 150 words. History of Present Illness A 56-year-old man presented acute onset of shortness of breath. He denied cough, fever or other symptoms Past Medical History, Family History and Social History • Occasional gout • No relevant family history • Never smoked Medications • Allopurinol • Multivitamin Physical Examination • Other than tachypnea and mild shortness of breath, no significant abnormalities. Chest X-ray An AP chest X-ray was performed (Figure 1). Which abnormality is suggested by the chest X-ray? 1. Calcified micronodules in the right lung 2. Retained secretions with atelectasis left lung 3. Right pneumothorax 4. 1 and 3 5. None. The chest X-ray is within normal limits. Correct! 4. 1 and 3 There is a deep sulcus sign on the right and hyperexpansion of the right hemithorax suggesting a right pneumothorax. A deep sulcus sign may be the only indication of a pneumothorax, especially in a supine film, when air collects anteriorly and basally within the …

Fine scale hippocampus morphology variation cross 552 healthy subjects from age 20 to 80.

The cerebral cortex varies over the course of a person's life span: at birth, the surface is smooth, before becoming more bumpy (deeper sulci and thicker gyri) in middle age, and thinner in senior years. In this work, a similar phenomenon was observed on the hippocampus. It was previously believed the fine-scale morphology of the hippocampus could only be extracted only with high field scanners (7T, 9.4T); however, recent studies show that regular 3T MR scanners can be sufficient for this purpose. This finding opens the door for the study of fine hippocampal morphometry for a large amount of clinical data. In particular, a characteristic bumpy and subtle feature on the inferior aspect of the hippocampus, which we refer to as hippocampal dentation, presents a dramatic degree of variability between individuals from very smooth to highly dentated. In this report, we propose a combined method joining deep learning and sub-pixel level set evolution to efficiently obtain fine-scale hippocampal segmentation on 552 healthy subjects. Through non-linear dentation extraction and fitting, we reveal that the bumpiness of the inferior surface of the human hippocampus has a clear temporal trend. It is bumpiest between 40 and 50 years old. This observation should be aligned with neurodevelopmental and aging stages.

Usefulness of resorbable plate in auricular elevation in two-stage microtia reconstruction.

Achieving a well-reconstructed retroauricular sulcus with satisfactory projection and a sufficiently deep retroauricular sulcus is important and at the same time challenging. The selection of the support material is crucial to obtain a sustainable, deep sulcus. The costal cartilage is the conventional material of choice. However, risk of slippage of inserted cartilage and donor site morbidity exists. Resorbable plates are durable, easy to secure and can be easily modified into desired shape. The current study aimed to demonstrate the effectiveness of using a resorbable plate for auricular elevation. Retrospective review of patients who received auricular elevation with resorbable plates from December 2020 to October 2022 was performed. Patients demographics, number of inserted plates and screws, postoperative complication were analyzed. Of 65 patients with microtia who underwent auricular reconstruction, resorbable plates were applied to 12 patients. Mean follow up period was 198 (range, 86-360) days. Auricular elevation was performed with one plate at cavum conchae and remnant rib cartilage at the helix in 10 patients (87)%. Two patients had resorbable plate as support material at the both sites. Regarding postoperative complications, there were no hematoma, seroma, plate exposure or plate fracture. Two patients suffered wound problems. One patient recovered only with conservative management. The other healed completely after debridement and intravenous antibiotics administration without undesired change of shape of ear. We suggest using resorbable plates as an ideal support material, as it can provide firm support to achieve appropriate depth of sulcus without excessive bulk.

Vocal Outcomes Following Laser-Assisted Sulcus Release for Superficial and Deep Vocal Fold Sulcus

The objective is to study vocal outcomes following laser-assisted sulcus release (LASR), having documented the length and depth of the sulcus intraoperatively. LASR performed for superficial and deep sulci were included. Retrospective, observational. The preoperative and 3-month postoperative and post voice-therapy Voice Handicap Index 10 (VHI), Grade-Roughness-Breathiness-Asthenia-Strain of the voice (GRBAS), Maximum Phonation Time (MPT), Fundamental Frequency (FO), and stroboscopy findings were noted retrospectively from our voice clinic records of LASR patients. Intraoperative sulci length and depth details were noted from records. Patients with coexisting lesions, surgically tackled, were excluded. In a total of 14 patients, 21 superficial sulci and eight deep sulci were operated by LASR. The average preoperative VHI improved from 25.3 to 9.9, GRBAS from 10.6 to 3.5, and MPT from 7.6 to 12.3seconds. The preoperative average FO was 235.9Hz in 12 patients (no pick-up in two) with a postoperative 248.4Hz. Using the Mann-Whitney U test, we found a statistically significant improvement in MPT, VHI, and GRBAS of the patients. There was no significant improvement in the FO of the patients. There was no postoperative voice deterioration in any patient. A preoperative phonatory gap was found in all patients, which postoperatively was absent in 10, markedly decreased in three, present in one with stroboscopy revealing an improvement in mucosal wave amplitude in 13 patients. In four patients with deep bilateral sulci where the LASR had been ligament deep, VHI improved from 26 to 13.3, GRBAS from 12 to 6.5, and MPT from 4.3 to 9.5seconds. Using the Mann-Whitney U test, all three parameters were significantly improved. A statistically significant vocal improvement in VHI, GRBAS, and MPT was observed at 3months, in superficial and deep sulci, operated by LASR. LASR is a simple, quick, and easily replicable surgery. Larger multi-centric studies with long-term follow-up are recommended.

On the evolution of polysensory superior temporal sulcus and middle temporal gyrus: A key component of the semantic system in the human brain.

The primary auditory cortex and other early auditory cortical areas lie on Heschl's gyrus within the Sylvian fissure. On the adjacent lateral surface of the superior temporal gyrus, the cortex processes higher order auditory information leading to auditory perception. On the ventral surface of the temporal lobe in the primate brain, there are areas that process higher order visual information leading to visual perception. These sensory-specific auditory and visual processing regions are separated by areas that integrate multisensory information within the deep superior temporal sulcus in both the macaque monkey and human brains. In the human brain, the multisensory integration cortex expands and forms the adjacent middle temporal gyrus. The expansion of this multisensory region in the language-dominant hemisphere of the human brain is critical for the emergence of semantic processing, namely, the processing of conceptual information that is not sensory specific but rather relies on multisensory integration.

On presentation of the human cerebral sulci from inside of the cerebrum.

The human cerebral cortex is highly convoluted forming patterns of gyri separated by sulci. The cerebral sulci and gyri are fundamental in cortical anatomy as well as neuroimage processing and analysis. Narrow and deep cerebral sulci are not fully discernible either on the cortical or white matter surface. To cope with this limitation, I propose a new sulci presentation method that employs the inner cortical surface for sulci examination from the inside of the cerebrum. The method has four steps, construct the cortical surface, segment and label the sulci, dissect (open) the cortical surface, and explore the fully exposed sulci from the inside. The inside sulcal maps are created for the left and right lateral, left and right medial, and basal hemispheric surfaces with the sulci parcellated by color and labeled. These three-dimensional sulcal maps presented here are probably the first of this kind created. The proposed method demonstrates the full course and depths of sulci, including narrow, deep, and/or convoluted sulci, which has an educational value and facilitates their quantification. In particular, it provides a straightforward identification of sulcal pits which are valuable markers in studying neurologic disorders. It enhances the visibility of sulci variations by exposing branches, segments, and inter-sulcal continuity. The inside view also clearly demonstrates the sulcal wall skewness along with its variability and enables its assessment. Lastly, this method exposes the sulcal 3-hinges introduced here.

The femora of Drepanosauromorpha (Reptilia: Diapsida): Implications for the functional evolution of the thigh of Sauropsida.

The femora of diapsids have undergone morphological changes related to shifts in postural and locomotor modes, such as the transition from plesiomorphic amniote and diapsid taxa to the apomorphic conditions related to a more erect posture within Archosauriformes. One remarkable clade of Triassic diapsids is the chameleon-like Drepanosauromorpha. This group is known from numerous articulated but heavily compressed skeletons that have the potential to further inform early reptile femoral evolution. For the first time, we describe the three-dimensional osteology of the femora of Drepanosauromorpha, based on undistorted fossils from the Upper Triassic Chinle Formation and Dockum Group of North America. We identify apomorphies and a combination of character states that link these femora to those in crushed specimens of drepanosauromorphs and compare our sample with a range of amniote taxa. Several characteristics of drepanosauromorph femora, including a hemispherical proximal articular surface, prominent asymmetry in the proximodistal length of the tibial condyles, and a deep intercondylar sulcus, are plesiomorphies shared with early diapsids. The femora contrast with those of most diapsids in lacking a crest-like, distally tapering internal trochanter. They bear a ventrolaterally positioned tuberosity on the femoral shaft, resembling the fourth trochanter in Archosauriformes. The reduction of an internal trochanter parallels independent reductions in therapsids and archosauriforms. The presence of a ventrolaterally positioned trochanter is also similar to that of chameleonid squamates. Collectively, these features demonstrate a unique femoral morphology for drepanosauromorphs, and suggest an increased capacity for femoral adduction and protraction relative to most other Permo-Triassic diapsids.

Perioperative ventilator-induced lung injury- An unexpected complication of post COVID-19 sequelae

In today’s era of the COVID-19 pandemic, post-covid lung sequelae increases the incidence of ventilator-induced lung injury in patients undergoing cancer surgeries. A 68 years old female patient underwent surgery for squamous cell carcinoma lower lip under general anesthesia. 10 minutes after reversal and adequate respiratory efforts, sudden desaturation with high peak airway pressures of 35-40 cmH2O was noticed. Bilateral air entry was markedly reduced with crepitus all over the chest and abdomen with stable hemodynamics. Chest X-ray revealed a bilateral deep sulcus sign suggesting bilateral pneumothorax and subcutaneous emphysema. Bilateral thoracostomy tubes were inserted immediately. The saturation and airway pressure improved, and she was extubated the next day. Retrospectively, a possible history of previous undiagnosed COVID-19 infection was sought and this emphasizes the importance of this history, in the ongoing pandemic. Previous history of COVID-19 predisposes patients to a high risk of ventilator-induced lung injury perioperatively.

Age, male sex, higher posterior tibial slope, deep sulcus sign, bone bruises on the lateral femoral condyle, and concomitant medial meniscal tears are risk factors for lateral meniscal posterior root tears: a systematic review and meta-analysis.

Lateral meniscus posterior root tears (LMPRTs) are commonly found in patients with anterior cruciate ligament (ACL) injuries. However, risk factors for LMPRTs are not well known. This study was designed to systematically review the available evidence regarding risk factors associated with LMPRTs. The PubMed, EMBASE, Cochrane Library, and Web of Science databases were searched for papers containing the key words "lateral meniscus posterior root tears", "LMPRTs" and "risk factor". Inclusion screening, data extraction, and quality assessment of the included articles were conducted independently by two authors. Statistical analysis was conducted to determine risk factors for LMPRTs. Seventeen studies with a total sample size of 6, 589 patients were identified. The pooled prevalence of LMPRTs was 9.6% (range, 5.1-33.8%) for ACL injury. Significant risk factors included a patient age of < 30 [OR = 1.4, 95% CI (1.07, 1.84), p = 0.01], male sex [OR = 1.50, 95% CI (1.24,1.81), p = 0.01], higher body mass index (BMI) [MD = 0.45, 95% CI (0.13, 0.76), p < 0.01], higher lateral posterior tibial slope (LPTS) [MD = 2.22, 95% CI (1.37, 3.07), p < 0.01], deep sulcus sign [OR = 5.76, 95% CI (1.35, 24.52), p < 0.01] and bone bruises on lateral femoral condyle [OR = 4.88, 95% CI (1.27, 18.77), p < 0.01], lateral meniscal extrusion > 1mm [OR = 5.56, 95% CI (1.52, 20.29), p < 0.01] and > 3mm [OR = 12.91 95% CI (1.28, 130.01), p < 0.01], medial meniscal tears [OR = 1.40, 95% CI (1.12, 1.75), p < 0.01], and medial ramp lesions [OR = 2.29, 95% CI (1.35, 3.89), p < 0.01]. Age below 30, male, higher BMI, higher LPTS, deep sulcus sign, bone bruises on lateral femoral condyle, lateral meniscal extrusion, medial meniscal tear, and medial ramp lesion are risk factors for LMPRTs. Level IV.

Mammalian petrosal from the Lower Cretaceous high paleo-latitude Teete locality (Yakutia, Eastern Russia)

Abstract A mammalian petrosal from the Lower Cretaceous Teete locality in Yakutia (Russia) shows a prominent and complex system of venous channels in the bony wall of the pars cochlearis surrounding the straight cochlear canal. This complex venous system is distinctive and more strongly developed than in other mammalian petrosals. A bony ridge is present on the ventral side of the cochlear canal endocast, continuing from between fenestra vestibuli and fenestra cochleae in anterior direction. This ridge corresponds to the position of the scala tympani, and is similar to the secondary bony lamina of crown therians, but lacks the sharp laminar edge. The fenestra cochleae is separate from the canal for the aquaeductus cochleae (derived), but the fenestra retains a deep sulcus that resembles the perilymphatic sulcus (plesiomorphic). The fenestra cochleae is oval shaped and deep. The straight cochlear canal with a ridge on the ventral side strongly resembles that of eutriconodontans like Priacodon fruitaensis from the Upper Jurassic of North America. However, thick and extensive venous channels in the pars cochlearis are otherwise known from docodontans. In the Teete petrosal the channels are even more developed, and resemble the pattern recently reported from possible haramiyidan petrosals from the Middle Jurassic of western Siberia (Russia). Both eutriconodontan and haramiyidan dental remains are known from the Teete locality beside that of tritylodontids and docodontans.

Eyebrow Position Before and After Enucleation

The presence of eyebrow elevation in anophthalmic patients has been used as evidence to support a proprioceptive stimulus for frontalis innervation. In this study, we examined the frequency of brow elevation before and after enucleation and reviewed additional clinical findings to determine if any were associated with eyebrow position. A retrospective study was performed on 134 anophthalmic patients. Demographics, measurements, and photographs were reviewed. Reference photographs were used to subjectively grade brow position and sulcus depth. Preoperative eyebrow elevation was present in 56.2% of patients without blepharospasm from a painful eye, of who 62% had chronic visual loss. Ipsilateral ptosis (p = 0.008), deep superior sulcus (p &lt; 0.001), and right-sided pathology (p = 0.045) were more common in patients with brow elevation. Symmetrically elevated brows were more frequent before right than left enucleation (p = 0.05). Brow position remained stable after 61.9% of procedures. While often mild, postoperative brow elevation was seen in 31.0% of patients without preoperative elevation. Deepening of the superior sulcus was more common in patients with new relative brow elevation (p = 0.031). Anophthalmic ptosis and right-left surgical side were not associated with new postoperative brow elevation. Eyebrow elevation was often present prior to enucleation and associated with an increased occurrence of ptosis, superior sulcus deepening, and right-sided pathology. Intact vision was not needed to maintain an elevated brow. Superior sulcus deepening, but not ptosis, was more common in patients developing new postoperative brow elevation. The findings support both proprioceptive and compensatory mechanisms for eyebrow elevation.

Morphological Study of Rouviere's Sulcus

Background: Rouviere's sulcus (RS) is a cleft, on the inferior surface of the liver, extending from the caudate process to the right lobe for a variable distance. Cystic duct and artery lie anterosuperior while the common bile duct lies anterior to this sulcus, making it an important landmark in laparoscopic cholecystectomy. Being situated anterior to segment I of liver and having the right posterior portal pedicle as its frequent content, it is an important guide in right segmental liver resection. This study intends to study the anatomy of the RS. Methodology: The present study was done by analyzing 60 formalin-fixed adult livers, for the presence/absence of RS, its morphology and morphometry. Results: RS was present in 49 (81.66%) specimens, it was oblique in 26 (43.33%), transverse in 23 (38.33%) and absent in 11 (18.33%) specimens, RS was classified into three different types - type 1, type 2, and type 3 based on its degree of penetration into the substance of the liver. Type 1, defined as a deep sulcus was present in 37 (61.66%) specimens. Type 2, a slit-like shallow sulcus was observed in 7 (11.66%) and type 3, scar-like sulcus was observed in 5 (8.33%) of specimens. The average length of RS was 2.84 cm, breadth was 0.18 cm and the average depth of the RS was 0.62 cm. Conclusion: RS is an important extra-biliary landmark of the liver, that could easily be visualized during laparoscopic hepatobiliary surgeries and its identification could definitely reduce the risk of bile duct and vascular injuries during these surgeries. Hence, the in-depth knowledge about the anatomy of RS which is less studied and not included in anatomy literature is essential.

Prosthetic and surgical management of a sizeable epulis fissuratum: a case report

This case report describes the management of a large-sized Epulis Fissuratum (EF) in a 70-year-old female patient using an original prosthetic technique. It consists of a combination of a tissue conditioning and a resection surgery. The patient´s main concern was a mucogingival tissue growth located on the left mandibular area. The interesting clinical findings deriving from this technique are: tissue conditioning is an important phase prior to the surgical resection of a large EF and occlusal functions can be maintained during the procedures with patient´s corrected dentures. After clinical, radiological and pathological examinations, the diagnosis was of an EF induced by an ill fitted mandibular denture. The intervention carried out was a combination of a 2 weeks tissue conditioning period followed by a cold blade surgical resection. After a 3 months follow-up period, a completely healed vestibular sulcus was observed with no scar tissue. The present technique facilitates the resection surgery by removing the inflammatory component of the EF. It also guides the post-surgical tissue healing, allowing the obtention of a deep vestibular sulcus, thus creating a better bearing surface for subsequent renewed dentures. Not depriving the patient of her dentures during the healing process helped to improve her quality of life and her cooperation.

Management of post enucleation socket syndrome patients - A retrospective study

The aim of this retrospective monocentric study was to report the outcomes following the correction of post enucleation socket syndrome (PESS) as well as the factors predicting for a multistep management.Patients were included, if they had received surgery to manage PESS. Demographics and patient history were collected. The symptoms of PESS were clinically rated by the same surgeon and ocularist, preoperatively and after each procedure. The surgery was considered as successful when no PESS clinical symptoms were observed. A prognostic study was performed to investigate the surgical outcomes. ResultsThirty-six patients were included and eight of them had their PESS corrected after the first surgery. In the multivariate analysis (MVA), the deep upper lid sulcus symptom remained the main significant factor associated with an incomplete correction after the first surgery (OR 45.5, IC 95% (3.481–594.6), p = 0.004). For further corrections, the ptosis was the only significant prognostic factor requiring several surgeries (p = 0.005). At the end of the management, 94.4% of the patients had satisfying outcomes. ConclusionsThe management of a PESS involves the correction of both the orbital cavity and the soft tissues. Although its correction is complex and time consuming in the majority of cases, the patients should be informed that the final cosmetic outcomes remain good at the expense of several surgeries.

Novel variants in OSGEP leading to Galloway-Mowat syndrome by altering its subcellular localization

Galloway-Mowat syndrome (GAMOS) is an extremely rare clinically heterogeneous autosomal or X-linked inherited recessive disease characterized by early-onset steroid-resistant nephrotic syndrome (SRNS), microcephaly and neurological impairment. In this study, two siblings mainly presenting with decreased head circumference, hypotonia, gross motor delay, and dysmorphic features were initially detected without pathogenic variants by karyotyping, SNP-array and WES. After a 3 year’s follow-up, the proband manifested additional proteinuria, hematuria and “deeper sulci” with a sign of brain atrophy. By reanalysis on the proband’s previous WES data, two novel compound heterozygous variants of OSGEP (c.133dupA; c.608C > T) were identified. Furthermore, functional studies showed that the variants reduced the expression of OSGEP protein and activated the DNA damage response (DDR) signaling in the lymphoblastoid cell lines (LCLs) obtained from the patient. The analysis of protein localization with confocal microscopy revealed that the EGFP-tagged/HA-tagged mutant OSGEP proteins were abnormal aggregation or retained inside the cytosol, respectively. Our study not only expanded the pathogenic variant spectrum of OSGEP but also carried on regular follow-up for kidney involvement and established a strategy for evaluation on the function of mutant OSGFP by subcellular localization assay.